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LOVD - Variant listings for RPS19

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+/+ 00 deletion of a complete allele (I) - p.0 - RPS19_00022 - Large deletion; haploinsufficiency - Reduces RPS19 mRNA levels Decreased to 50% of controls (lymphoblastoid cell lines, BM CD34+) [1,2] - - 18S rRNA processing defect, as indicated by increase in 21S pre-rRNA (increased 21S/18SE ratio). BM CD34- cells: ratio 3,3. BM CD34+ cells: ratio 1,7 [3] . Similar effects in yeast [4]. - - - [1] Chatr-Aryamontri et al (2004) Hum Mutat 24, 526-33; [2] Hamaguchi et al (2002) Blood 100, 2724-31; [3] Flygare et al (2007) Blood 109, 980-6; [4] Léger-Silvestre et al (2005) J Biol Chem 280, 38177-85 pat1rps1900022 m Macrocephaly, mental retardation, short broad bones, extra ribs, malformations of the spine yes na - de novo, in patient Gustavsson et al (1997) Nat Genet 16, 368-71 DNA FISH, STR - 1
+/+ 00 deletion of a complete allele (II) - p.0 - RPS19_00067 - Large deletion; haploinsufficiency - Reduces RPS19 mRNA levels Decreased to 50% of controls (lymphoblastoid cell lines, BM CD34+) [1,2] - - 18S rRNA processing defect, as indicated by increase in 21S pre-rRNA (increased 21S/18SE ratio). BM CD34- cells: ratio 3,3. BM CD34+ cells: ratio 1,7 [3] . Similar effects in yeast [4]. - - - [1] Chatr-Aryamontri et al (2004) Hum Mutat 24, 526-33; [2] Hamaguchi et al (2002) Blood 100, 2724-31; [3] Flygare et al (2007) Blood 109, 980-6; [4] Léger-Silvestre et al (2005) J Biol Chem 280, 38177-85 pat1rps1900067 m Macrocephaly, hypotonia, psychomotor retardation na na - de novo, in patient Gustavsson et al (1998) Am J Hum Genet 63, 1388-95 DNA FISH, STR - 1
+/+ 00 deletion of a complete allele (III) - p.0 - RPS19_00069 - Large deletion; haploinsufficiency - - - - - - - - - - pat1rps1900142 m Short stature na na - de novo, in patient Quarello et al (2008) Haematologica Nov. 93, 1748-50 DNA MPLA, microsatellites - 1
+/+ 00 deletion of a complete allele (IV) - p.0 - RPS19_00081 - Large deletion; haploinsufficiency - Reduces RPS19 mRNA levels RPS19 mRNA reduced Skewed SSU/LSU protein ratio - - - - - Badhai et al (2009) FEBS Lett 583(12), 2049-53 pat1rps1900081 m Mental retardation, short stature, short extremities, slight macrocephaly, skeletal malformations na na - de novo, in patient Tentler et al (2000) J Med Genet 37, 128-31 DNA SEQ, RT-QPCR, Western, FISH - 1
+/+ 00 deletion of a complete allele (V) - p.0 - RPS19_00089 - Large deletion; haploinsufficiency - - - - - - - - - - pat1rps1900089 f Mild heart failure na yes - de novo, in patient Quarello et al (2008) Haematologica Nov. 93, 1748-50 DNA MPLA, microsatellites - 1
+/+ 00 deletion of a complete allele (VI) - p.0 - RPS19_00094 - Large deletion; haploinsufficiency - - - - - - - - - - pat1rps1900094 m Cranofacial abnormalities, urogenital abnormalities, mental retardation, strabismus na yes - de novo, in patient Quarello et al (2008) Haematologica Nov. 93, 1748-50 DNA MPLA, microsatellites - 1
+/+ 00 t(1;19)(p32;q13) - p.0 - RPS19_00080 - Translocation - - - - - - - - - - pat1rps1900080 f Mental retardation na na - de novo, in patient Campagnoli et al (2004) Haematologica 89, 480-9 DNA Kar, STR - 1
+/+ 00 t(8;19)(q35;q13) - p.0 - RPS19_00079 - Translocation - - - - - - - - - - pat1rps1900079 f Mental retardation yes na - de novo, in patient Gustavsson et al (1998) Am J Hum Genet 63, 1388-95 DNA Kar, FISH, STR - 1
+/+ 00 t(X;19) (p21;q13) - p.0 - RPS19_00078 - Translocation; haploinsufficiency - Reduces RPS19 mRNA levels Normal in peripheral blood MNC, but reduced levels compared to controls in BM CD34+. No abnormal size transcript [1]. - - 18S rRNA processing defect, as indicated by increase in 21S pre-rRNA (21S/18SE ratio: 3,1) (BM CD34+ cells) [2]. - - - [1] Hamaguchi et al (2002) Blood 100, 2724-31; [2] Flygare et al (2007) Blood 109, 980-6 pat1rps1900078 f Left kidney aplasia/hypoplasia yes na - de novo, in patient Gustavsson et al (1997) J Med Genet 34, 779-82 DNA Kar, FISH - 1
+/? 02 c.1-2A>T - p.0? - RPS19_00086 Intron 1 Acceptor splice site defect transversion - - - - - - - - - pat2rps1900086 m None no na - familial Hanna Gazda, Children's Hospital Boston DNA SEQ - 1
+/? 02 c.1-2A>T - p.0? - RPS19_00086 Intron 1 Acceptor splice site defect transversion - - - - - - - - - pat1rps1900086 m None no na - familial Hanna Gazda, Children's Hospital Boston DNA SEQ - 1
+/+ 02 c.1-1G>A - p.0 - RPS19_00065 Intron 1 Acceptor splice site defect transition - - - - - - - - - pat1rps1900065 f None na na - de novo, in patient Campagnoli et al (2004) Haematologica 89, 480-9 DNA SEQ - 1
+/+ 02 c.1-1G>C - p.0? - RPS19_00126 Intron 1 Acceptor splice site defect transversion - - - - - - - - - patrps1900126 m Short stature na yes - familial U. Ramenghi, Dept. Pediatrics Università di Torino DNA SEQ - 1
+/+ 02 c.1-1G>T - p.0 - RPS19_00064 Intron 1 Acceptor splice site defect transversion - - - - - - - - - pat1rps1900064 m None no na - familial Draptchinskaia et al (1999) Nat Genet 21, 169-75 DNA SEQ - 1
+/+ 02 c.1A>G - p.Met1Val - RPS19_00011 - Missense mutation transition Reduces RPS19 mRNA levels Reduced to 70-80% of controls in lymphoblastoid cell lines [1]. Part of the mutated mRNA could use a downstream in-frame AUG, the other is degraded through NMD. Skewed SSU/LSU protein ratio[2] - - - - - [1] Chatr-Aryamontri et al (2004) Hum Mutat 24, 526-33; [2]Badhai et al (2009) FEBS Lett 583(12), 2049-53 pat1rps1900011 m None no na - familial Draptchinskaia et al (1999) Nat Genet 21, 169-75 DNA SEQ - 1
+/+ 02 c.1A>G - p.Met1Val - RPS19_00011 - Missense mutation transition Reduces RPS19 mRNA levels Reduced to 70-80% of controls in lymphoblastoid cell lines [1]. Part of the mutated mRNA could use a downstream in-frame AUG, the other is degraded through NMD. Skewed SSU/LSU protein ratio[2] - - - - - [1] Chatr-Aryamontri et al (2004) Hum Mutat 24, 526-33; [2]Badhai et al (2009) FEBS Lett 583(12), 2049-53 pat4rps1900011 f None no no - de novo, in patient Lydie Da Costa, Hematology Laboratory, Robert Debré Hospital Paris DNA PCR - 1
+/+ 02 c.1A>G - p.Met1Val - RPS19_00011 - Missense mutation transition Reduces RPS19 mRNA levels Reduced to 70-80% of controls in lymphoblastoid cell lines [1]. Part of the mutated mRNA could use a downstream in-frame AUG, the other is degraded through NMD. Skewed SSU/LSU protein ratio[2] - - - - - [1] Chatr-Aryamontri et al (2004) Hum Mutat 24, 526-33; [2]Badhai et al (2009) FEBS Lett 583(12), 2049-53 pat2rps1900011 m None no na - de novo, in patient Hanna Gazda, Children's Hospital Boston DNA SEQ - 1
+/+ 02 c.1A>G - p.Met1Val - RPS19_00011 - Missense mutation transition Reduces RPS19 mRNA levels Reduced to 70-80% of controls in lymphoblastoid cell lines [1]. Part of the mutated mRNA could use a downstream in-frame AUG, the other is degraded through NMD. Skewed SSU/LSU protein ratio[2] - - - - - [1] Chatr-Aryamontri et al (2004) Hum Mutat 24, 526-33; [2]Badhai et al (2009) FEBS Lett 583(12), 2049-53 pat3rps1900011 f None no no - de novo, in patient Hanna Gazda, Children's Hospital Boston DNA SEQ - 1
+/+ 02 c.1A>G - p.Met1Val - RPS19_00011 - Missense mutation transition Reduces RPS19 mRNA levels Reduced to 70-80% of controls in lymphoblastoid cell lines [1]. Part of the mutated mRNA could use a downstream in-frame AUG, the other is degraded through NMD. Skewed SSU/LSU protein ratio[2] - - - - - [1] Chatr-Aryamontri et al (2004) Hum Mutat 24, 526-33; [2]Badhai et al (2009) FEBS Lett 583(12), 2049-53 pat5rps1900011 m Not available na na - sporadic?(parents not tested) Niklas Dahl, University Children's Hospital Uppsala DNA SEQ, RT-QPCR, Western - 1
+/+? 02 c.2T>A - p.Met? - RPS19_00095 - Missense mutation transversion - - - - - - - - - pat1rps1900095 f Not available na na (corticoid test not performed, regularly transfused) - familial Lydie Da Costa, Hematology Laboratory, Robert Debré Hospital Paris DNA PCR - 1
+/+? 02 c.3G>A - p.Met1Ile - RPS19_00014 - Missense mutation transition - - - - - - - - - pat1rps1900014 m None na na - sporadic?(parents not tested) Proust et al (2003) Hematol J 4, 132-6 DNA SEQ - 1
+/+? 02 c.3G>A - p.Met1Ile - RPS19_00014 - Missense mutation transition - - - - - - - - - pat3rps1900014 m VSD, pulmunary sequestration no no - sporadic?(parents not tested) Hanna Gazda, Children's Hospital Boston DNA SEQ - 1
+/+? 02 c.3G>A - p.Met1Ile - RPS19_00014 - Missense mutation transition - - - - - - - - - pat4rps1900014 f Not available na na - de novo, in patient U. Ramenghi, Dept. Pediatrics Università di Torino DNA SEQ - 1
+/+? 02 c.3G>A - p.Met1Ile - RPS19_00014 - Missense mutation transition - - - - - - - - - pat2rps1900014 f Interventricular septal defect no na - familial Campagnoli et al (2008) Hum Mutat Apr 15 DNA SEQ - 1
+/+? 02 c.3G>C - p.Met1Ile - RPS19_00012 - Missense mutation transversion - - - - - - - - - pat1rps1900012 m None yes na - sporadic?(parents not tested) Ramenghi et al (2000) Blood Cells Mol Dis 26, 417-22 DNA SEQ - 1
+/+? 02 c.3G>T - p.Met1Ile - RPS19_00013 - Missense mutation transversion - - - - - - - - - pat2rps1900013 f None yes yes - de novo, in patient Orfali et al (2004) Br J Haematol 125, 243-52 DNA SEQ - 1
+/+? 02 c.3G>T - p.Met1Ile - RPS19_00013 - Missense mutation transversion - - - - - - - - - pat3rps1900013 m None yes yes - sporadic?(parents not tested) Hanna Gazda, Children's Hospital Boston DNA SEQ - 1
+/+? 02 c.3G>T - p.Met1Ile - RPS19_00013 - Missense mutation transversion - - - - - - - - - pat1rps1900013 m None no na - de novo, in patient Ramenghi et al (2000) Blood Cells Mol Dis 26, 417-22 DNA SEQ - 1
+/+? 02 c.3G>T - p.Met1Ile - RPS19_00013 - Missense mutation transversion - - - - - - - - - pat5rps1900013 f Ear malformations na yes - de novo, in patient U. Ramenghi, Dept. Pediatrics Università di Torino DNA SEQ - 1
+/+? 02 c.3G>T - p.Met1Ile - RPS19_00013 - Missense mutation transversion - - - - - - - - - pat4rps1900076 m None no yes but high doses - sporadic?(parents not tested) Hanna Gazda, Children's Hospital Boston DNA SEQ - 1
+/+ 02 c.10_13delGTTA - p.Val4LeufsX2 - RPS19_00091 - Deletion - - - - - - - - - - pat1rps1900091 f None no yes - sporadic?(parents not tested) Hanna Gazda, Children's Hospital Boston DNA SEQ - 1
+/+ 02 c.13_14insA - p.Thr5AsnfrX46 - RPS19_00037 - Insertion slippage Reduces RPS19 mRNA levels Decreased to 50-60% of controls due to NMD of the aberrant mRNA (lymphoblastoid cell lines) [1] - - - - - translation inhibition by cycloheximide stabilizes the mutant mRNA form, as expected in NMD and nonstop decay [1] Chatr-Aryamontri et al (2004) Hum Mutat 24, 526-33 pat1rps1900037 m None no na - sporadic?(parents not tested) Draptchinskaia et al (1999) Nat Genet 21, 169-75 DNA SEQ - 1
+/+ 02 c.13_14insA - p.Thr5AsnfrX46 - RPS19_00037 - Insertion slippage Reduces RPS19 mRNA levels Decreased to 50-60% of controls due to NMD of the aberrant mRNA (lymphoblastoid cell lines) [1] - - - - - translation inhibition by cycloheximide stabilizes the mutant mRNA form, as expected in NMD and nonstop decay [1] Chatr-Aryamontri et al (2004) Hum Mutat 24, 526-33 pat2rps1900037 f ASD, high arched palate yes no - sporadic?(parents not tested) Hanna Gazda, Children's Hospital Boston DNA SEQ - 1
+/+ 02 c.14delC - p.Thr5MetfsX2 - RPS19_00096 - Deletion - - - - - - - - - - pat1rps1900096 f Not available na na - ? (unknown) Lydie Da Costa, Hematology Laboratory, Robert Debré Hospital Paris DNA PCR - 1
+/+ 02 c.20_32del - p.Lys7SerfsX18 - RPS19_00038 - Deletion - - - - - - - - - - pat1rps1900038 m Bilateral epicanthus na na - de novo, in patient Proust et al (2003) Hematol J 4, 132-6 DNA SEQ - 1
+/+ 02 c.25_42del - p.Val9_Phe14del - RPS19_00039 - Deletion - - - - - - - - - - pat1rps1900039 f None na na - de novo, in patient Proust et al (2003) Hematol J 4, 132-6 DNA SEQ - 1
+/+ 02 c.28_29insT - p.Asn10IlefsX41 - RPS19_00114 - Insertion - - - - - - - - - - pat1rps1900114 m Not available na na - sporadic Joerg Meerpohl, Dept. of Pediatric and Adolescent Medicine, University Medical Center Freiburg DNA PCR - 1
+/+ 02 c.31C>T - p.Gln11X - RPS19_00001 - Nonsense mutation transition Reduces RPS19 mRNA levels 2 to 4-fold decreased compared to controls, likely subjected to NMD (BM CD34+ and peripheral blood MNC) [1] 3-fold protein reduction in CD34+ BM cells, normal levels in peripheral MNC cells. Putative truncated protein not detectable [1] - - - - - [1] Gazda et al (2004) Br J Haematol 127, 105-13 pat1rps1900001 m None no na - de novo, in patient Willig et al (1999) Blood 94, 4294-306 DNA SEQ - 1
+/+ 02 c.31C>T - p.Gln11X - RPS19_00001 - Nonsense mutation transition Reduces RPS19 mRNA levels 2 to 4-fold decreased compared to controls, likely subjected to NMD (BM CD34+ and peripheral blood MNC) [1] 3-fold protein reduction in CD34+ BM cells, normal levels in peripheral MNC cells. Putative truncated protein not detectable [1] - - - - - [1] Gazda et al (2004) Br J Haematol 127, 105-13 pat2rps1900001 f None na na - sporadic?(parents not tested) Proust et al (2003) Hematol J 4, 132-6 DNA SEQ - 1
+/+ 02 c.31C>T - p.Gln11X - RPS19_00001 - Nonsense mutation transition Reduces RPS19 mRNA levels 2 to 4-fold decreased compared to controls, likely subjected to NMD (BM CD34+ and peripheral blood MNC) [1] 3-fold protein reduction in CD34+ BM cells, normal levels in peripheral MNC cells. Putative truncated protein not detectable [1] - - - - - [1] Gazda et al (2004) Br J Haematol 127, 105-13 pat3rps1900001 na Not available na na - sporadic?(parents not tested) Gazda et al (2004) Br J Haematol 127, 105-13 DNA SEQ - 1
+/+ 02 c.31C>T - p.Gln11X - RPS19_00001 - Nonsense mutation transition Reduces RPS19 mRNA levels 2 to 4-fold decreased compared to controls, likely subjected to NMD (BM CD34+ and peripheral blood MNC) [1] 3-fold protein reduction in CD34+ BM cells, normal levels in peripheral MNC cells. Putative truncated protein not detectable [1] - - - - - [1] Gazda et al (2004) Br J Haematol 127, 105-13 pat4rps1900001 na Not available na na - sporadic?(parents not tested) Gazda et al (2004) Br J Haematol 127, 105-13 DNA SEQ - 1
+/+ 02 c.31C>T - p.Gln11X - RPS19_00001 - Nonsense mutation transition Reduces RPS19 mRNA levels 2 to 4-fold decreased compared to controls, likely subjected to NMD (BM CD34+ and peripheral blood MNC) [1] 3-fold protein reduction in CD34+ BM cells, normal levels in peripheral MNC cells. Putative truncated protein not detectable [1] - - - - - [1] Gazda et al (2004) Br J Haematol 127, 105-13 pat5rps1900001 f Decreased hearing no yes - sporadic?(parents not tested) Hanna Gazda, Children's Hospital Boston DNA SEQ - 1
+/+ 02 c.34C>T - p.Gln12X - RPS19_00002 - Nonsense mutation transition Unclassified Aberrant mRNA might undergo NMD - - Lower rate of ribosomal biogenesis in human dermal fibroblasts and defect in ITS1 processing of 18S rRNA (increase in 21S to 18SE pre-rRNA ratio). Accumulation of 45S and 41S precursors. Dermal fibroblasts show rounded and condensed nucleoli, with changes in nucleolar organization [1] - Impairs growth of skin fibroblasts [1] - [1]Choesmel et al (2007) Blood 109, 1275-83 pat2rps1900002 m None no yes - de novo, in patient Willig et al (1999) Blood 94, 4294-306 DNA SEQ - 1
+/+ 02 c.34C>T - p.Gln12X - RPS19_00002 - Nonsense mutation transition Unclassified Aberrant mRNA might undergo NMD - - Lower rate of ribosomal biogenesis in human dermal fibroblasts and defect in ITS1 processing of 18S rRNA (increase in 21S to 18SE pre-rRNA ratio). Accumulation of 45S and 41S precursors. Dermal fibroblasts show rounded and condensed nucleoli, with changes in nucleolar organization [1] - Impairs growth of skin fibroblasts [1] - [1]Choesmel et al (2007) Blood 109, 1275-83 pat1rps1900002 f Kidney hypoplasia, lowhair line yes na - de novo, in patient Willig et al (1999) Blood 94, 4294-306 DNA SEQ - 1
+/+ 02 c.34C>T - p.Gln12X - RPS19_00002 - Nonsense mutation transition Unclassified Aberrant mRNA might undergo NMD - - Lower rate of ribosomal biogenesis in human dermal fibroblasts and defect in ITS1 processing of 18S rRNA (increase in 21S to 18SE pre-rRNA ratio). Accumulation of 45S and 41S precursors. Dermal fibroblasts show rounded and condensed nucleoli, with changes in nucleolar organization [1] - Impairs growth of skin fibroblasts [1] - [1]Choesmel et al (2007) Blood 109, 1275-83 pat3rps1900002 f None no na - de novo, in patient (paternal allele) Orfali et al (2004) Br J Haematol 125, 243-52 DNA SEQ - 1
+/+ 02 c.34_47del - p.Gln12SerfsX34 - RPS19_00115 - Deletion - - - - - - - - - - pat1rps1900115 f Dystrophy na na - ? (unknown) Joerg Meerpohl, Dept. of Pediatric and Adolescent Medicine, University Medical Center Freiburg DNA PCR - 1
+/+ 02 c.36_37insAG - p.Glu13ArgfsX17 - RPS19_00040 - Insertion slippage Reduces RPS19 mRNA levels 2 to 4-fold decreased compared to controls. Aberrant mRNA not detectable, likely subjected to NMD (BM CD34+ and peripheral blood MNC) [1] - - - - - - [1] Gazda et al (2004) Br J Haematol 127, 105-13 pat1rps1900040 na Not available na na - familial Gazda et al (2004) Br J Haematol 127, 105-13 DNA SEQ - 1
+/+ 02 c.43G>T - p.Val15Phe - RPS19_00015 - Missense mutation transversion Reduces RPS19 protein levels and impairs nucleolar localization - Reduced protein levels. Protein instability (in Cos7 and HEK293 cells) [1,2] No nucleolar localization, no ribosome association(in Cos7 and HEK293 cells) [1,2] The yeast orthologue mutation (p.Ile15Phe) causes 18S rRNA processing defect, as indicated by increase of 21S rRNA and nucleolar accumulation of pre-40S particles [3] - The yeast orthologue mutation (p.Ile15Phe) abolishes the ability of Rps19A protein to support cell growth [3] - [1] Angelini et al (2007) Hum Mol Genet 16, 1720-7; [2] Da Costa et al (2003) Blood 101, 5039-45; [3] Léger-Silvestre et al (2005) J Biol Chem 280, 38177-85 pat2rps1900015 f None yes na - sporadic?(parents not tested) Da Costa et al (2003) Blood 101, 5039-45 DNA SEQ - 1
+/+ 02 c.43G>T - p.Val15Phe - RPS19_00015 - Missense mutation transversion Reduces RPS19 protein levels and impairs nucleolar localization - Reduced protein levels. Protein instability (in Cos7 and HEK293 cells) [1,2] No nucleolar localization, no ribosome association(in Cos7 and HEK293 cells) [1,2] The yeast orthologue mutation (p.Ile15Phe) causes 18S rRNA processing defect, as indicated by increase of 21S rRNA and nucleolar accumulation of pre-40S particles [3] - The yeast orthologue mutation (p.Ile15Phe) abolishes the ability of Rps19A protein to support cell growth [3] - [1] Angelini et al (2007) Hum Mol Genet 16, 1720-7; [2] Da Costa et al (2003) Blood 101, 5039-45; [3] Léger-Silvestre et al (2005) J Biol Chem 280, 38177-85 pat1rps1900015 f None no yes - de novo, in patient Willig et al (1999) Blood 94, 4294-306 DNA SEQ - 1
+/+? 02 c.49G>C - p.Ala17Pro - RPS19_00098 - Missense mutation transversion - - - - - - - - - pat1rps1900098 m Not available na na - sporadic Niklas Dahl, University Children's Hospital Uppsala DNA SEQ - 1
+/+ 02 c.53T>C - p.Leu18Pro - RPS19_00016 - Missense mutation transition Reduces RPS19 protein levels and impairs nucleolar localization - Reduced protein levels. Protein instability (in HEK293 cells) [1] No nucleolar localization, no ribosome association(in Hela and HEK293 cells) [1] - - - - [1] Angelini et al (2007) Hum Mol Genet 16, 1720-7 pat1rps1900016 m None no na - sporadic?(parents not tested) Ramenghi et al (2000) Blood Cells Mol Dis 26, 417-22 DNA SEQ - 1
+/+? 02 c.53T>G - p.Leu18Arg - RPS19_00017 - Missense mutation transversion - - - - - - - - - pat1rps1900017 na Not available na yes - familial Gazda et al (2004) Br J Haematol 127, 105-13 DNA SEQ - 1
+/+ 02 c.53_54insAGA - p.Leu18_Ala19insGlu - RPS19_00041 - Insertion - - - - - - - - - - pat1rps1900041 f Bilateral congenital glaucoma, left eyelid ptosis, atrial septal defect yes na - de novo, in patient Willig et al (1999) Blood 94, 4294-306 DNA SEQ - 1
+/+ 02 c.58delG - p.Ala20ProfsX9 - RPS19_00042 - Deletion - - - - - - - - - - pat1rps1900042 m Inguinal hernia no yes - de novo, in patient Campagnoli et al (2004) Haematologica 89, 480-9 DNA SEQ - 1
+/+? 02 c.58G>C - p.Ala20Pro - RPS19_00112 - Missense mutation transversion - - - - - - - - - pat1rps1900112 na Not available na na - ? (unknown) Dagmar Pospisilova, Dept. of Pediatrics, Palacky University, Olomouc DNA SEQ - 1
+/+? 02 c.62T>C - p.Phe21Ser - RPS19_00018 - Missense mutation transition - - - - - - - - - pat1rps1900018 f None na na - sporadic Campagnoli et al (2008) Hum Mutat Apr 15 DNA SEQ - 1
+/+ 02 c.71+1G>A - p.0 - RPS19_00066 Intron 2 Donor splice site defect transition - - - - - - - - - pat2rps1900066 m None yes na - de novo, in patient Orfali et al (2004) Br J Haematol 125, 243-52 DNA SEQ - 1
+/+ 02 c.71+1G>A - p.0 - RPS19_00066 Intron 2 Donor splice site defect transition - - - - - - - - - pat1rps1900066 m None na na - familial Proust et al (2003) Hematol J 4, 132-6 DNA SEQ - 1
+/+? 02 c.71+1G>C - p.0? - RPS19_00097 Intron 2 Donor splice site defect transversion - - - - - - - - - pat1rps1900097 m Not available na na - de novo, in patient Lydie Da Costa, Hematology Laboratory, Robert Debré Hospital Paris DNA PCR - 1
+/+ 02 c.71+3_71+6delGAGT - p.0 - RPS19_00068 Intron 2 Donor splice site defect - - - - - - - - - - pat1rps1900068 f None no yes - familial Draptchinskaia et al (1999) Nat Genet 21, 169-75 DNA SEQ - 1
+/+ 03 LOH 3' to exon 3 - p.0 - RPS19_00083 - Intragenic deletion - - - - - - - - - - pat1rps1900083 m Face, thumb, renal na na - de novo, in patient (paternal allele) Orfali et al (2004) Br J Haematol 125, 243-52 DNA SEQ - 1
+/+ 03 c.72-2A>C - p? - RPS19_00099 Intron 2 Acceptor splice site defect transversion Reduces RPS19 mRNA levels Reduces RPS19 mRNA levels Reduces protein levels - Yes - G1 arrest - Badhai et al (2009) Biochim Biophys Acta 1792(10), 1036-42 pat1rps1900099 f Thumb yes yes - sporadic Badhai et al (2009) Biochim Biophys Acta 1792(10), 1036-42 DNA SEQ, RT-QPCR, Western, Northern Mild anemia 1
+/+? 03 c.72-1G>A - p.0? - RPS19_00116 Intron 2 Acceptor splice site defect transition - - - - - - - - - pat1rps1900116 m Macrocephaly, mental retardation na na - ? (unknown) Joerg Meerpohl, Dept. of Pediatric and Adolescent Medicine, University Medical Center Freiburg DNA PCR - 1
+/? 03 c.83T>G - p.Leu28Arg - RPS19_00103 - Missense mutation transition - - - - - - - - - pat1rps1900103 f None no na (corticoid test not performed, regularly transfused) - ? (unknown) Lydie Da Costa, Hematology Laboratory, Robert Debré Hospital Paris DNA PCR - 1
+/+ 03 c.88delG - p.Val30SerfsX46 - RPS19_00117 - Deletion - - - - - - - - - - pat1rps1900117 m Microcephaly, micro-retrognathy, hypertelorism, cafe au lait spots na na - familial Joerg Meerpohl, Dept. of Pediatric and Adolescent Medicine, University Medical Center Freiburg DNA PCR - 1
+/+ 03 c.93delC - p.Glu32AsnfsX44 - RPS19_00100 - Deletion slippage - - - - - - - - - pat1rps1900100 m Thumb no no - ? (unknown) Lydie Da Costa, Hematology Laboratory, Robert Debré Hospital Paris DNA PCR - 1
+/+ 03 c.98G>A - p.Trp33X - RPS19_00003 - Nonsense mutation transition - - - - - - - - - pat1rps1900003 m Hydrocephaly, unique median cerebral ventricule, atrioventricular septal defect, modelling defect of long bones no na - de novo, in patient Willig et al (1999) Blood 94, 4294-306 DNA SEQ - 1
+/+ 03 c.98G>A - p.Trp33X - RPS19_00003 - Nonsense mutation transition - - - - - - - - - pat2rps1900003 f None na na - sporadic?(parents not tested) Matsson et al (1999) Hum Genet 105, 496-500 DNA SEQ, Southern - 1
+/+ 03 c.103dupG - p.Asp35GlyfsX16 - RPS19_00102 - Insertion slippage - - - - - - - - - pat1rps1900102 m None no no - ? (unknown) Lydie Da Costa, Hematology Laboratory, Robert Debré Hospital Paris DNA PCR - 1
+/+ 03 c.104_105insA - p.Asp35GlufsX16 - RPS19_00043 - Insertion slippage Reduces RPS19 mRNA levels RPS19 mRNA reduced Skewed SSU/LSU protein ratio - - - - - Badhai et al (2009) FEBS Lett 583(12), 2049-53 pat1rps1900043 m Mitral valve dysplasia yes na - sporadic?(parents not tested) Draptchinskaia et al (1999) Nat Genet 21, 169-75 DNA SEQ - 1
+/+ 03 c.104_105insA - p.Asp35GlufsX16 - RPS19_00043 - Insertion slippage Reduces RPS19 mRNA levels RPS19 mRNA reduced Skewed SSU/LSU protein ratio - - - - - Badhai et al (2009) FEBS Lett 583(12), 2049-53 pat2rps1900043 f Dysplasia of mitral valve, short stature na no - sporadic Willig et al (1999) Blood 94, 4294-306 DNA SEQ, RT-QPCR, Western - 1
+/+ 03 c.106_107insA - p.Thr36AsnfsX15 - RPS19_00044 - Insertion slippage Reduces RPS19 mRNA levels 2 to 4-fold decreased compared to controls; low amount of aberrant mRNA detectable, likely subjected to NMD (BM CD34+ and peripheral blood MNC) [1] 2-fold protein reduction in CD34+ BM cells, normal levels in peripheral MNC cells. Putative truncated protein not detectable [1] - - - - - [1] Gazda et al (2004) Br J Haematol 127, 105-13 pat1rps1900044 na Not available na na - sporadic?(parents not tested) Gazda et al (2004) Br J Haematol 127, 105-13 DNA SEQ - 1
+/+ 03 c.106_107insA - p.Thr36AsnfsX15 - RPS19_00044 - Insertion slippage Reduces RPS19 mRNA levels 2 to 4-fold decreased compared to controls; low amount of aberrant mRNA detectable, likely subjected to NMD (BM CD34+ and peripheral blood MNC) [1] 2-fold protein reduction in CD34+ BM cells, normal levels in peripheral MNC cells. Putative truncated protein not detectable [1] - - - - - [1] Gazda et al (2004) Br J Haematol 127, 105-13 pat2rps1900044 f None no na - ? (unknown) Lydie Da Costa, Hematology Laboratory, Robert Debré Hospital Paris DNA PCR - 1
+/+ 03 c.112A>T - p.Lys38X - RPS19_00090 - Nonsense mutation transversion - - - - - - - - - pat1rps1900090 m None no no - sporadic?(parents not tested) Hanna Gazda, Children's Hospital Boston DNA SEQ - 1
+/+ 03 c.[134_135delinsAA;139_140insTC] - p.[Leu45Gln;Pro47LeufsX30] - RPS19_00045 - Insertion/Deletion - Unclassified Levels similar to controls could exclude NMD (BM CD34+ and PB MNC) [1] - - 18S rRNA processing defect, as indicated by increase in 21S pre-rRNA (21S/18SE ratio:3,8) (BM CD34- cells) [2] - - - [1] Hamaguchi et al (2002) Blood 100, 2724-31; [2] Flygare et al (2007) Blood 109, 980-6 pat1rps1900045 f None na na - familial Matsson et al (1999) Hum Genet 105, 496-500 DNA SEQ, Southern - 1
+/+ 03 c.140C>T - p.Pro47Leu - RPS19_00019 - Missense mutation transition Impairs ribosomal association but not nucleolar localization - Apparently normal protein levels. Intermediate stability (HEK293) [1,2] Nucleolar localization, but no ribosome association(HeLa-HEK293) [1] No alteration in polysomal profile. 18S rRNA processing defect, as indicated by increased ratio of 21S to 18SE pre-rRNA (lymphoblastoid cell lines) [2] - - 21S/18SE ratio was not reported for this single mutation, but for 6 DBA lymphoblastoid cell lines with 3 different RPS19 mutations (mean value DBA: 1,22-/-0,39; controls: 0,68+/-0,1) [2] [1] Angelini et al (2007) Hum Mol Genet 16, 1720-7; [2] Idol et al (2007) Blood Cells Mol Dis 39, 35-43 pat2rps1900019 m ? ? ? - sporadic Niklas Dahl, University Children's Hospital Uppsala DNA SEQ - 1
+/+ 03 c.140C>T - p.Pro47Leu - RPS19_00019 - Missense mutation transition Impairs ribosomal association but not nucleolar localization - Apparently normal protein levels. Intermediate stability (HEK293) [1,2] Nucleolar localization, but no ribosome association(HeLa-HEK293) [1] No alteration in polysomal profile. 18S rRNA processing defect, as indicated by increased ratio of 21S to 18SE pre-rRNA (lymphoblastoid cell lines) [2] - - 21S/18SE ratio was not reported for this single mutation, but for 6 DBA lymphoblastoid cell lines with 3 different RPS19 mutations (mean value DBA: 1,22-/-0,39; controls: 0,68+/-0,1) [2] [1] Angelini et al (2007) Hum Mol Genet 16, 1720-7; [2] Idol et al (2007) Blood Cells Mol Dis 39, 35-43 pat1rps1900019 m Not available na yes - de novo, in patient Ramenghi et al (2000) Blood Cells Mol Dis 26, 417-22 DNA SEQ - 1
+/+ 03 c.144C>A - p.Tyr48X - RPS19_00004 - Nonsense mutation transversion - - - - - - - - - pat1rps190004 f Triphalangeal thumb, low implantation of thumbs no na - de novo, in patient Willig et al (1999) Blood 94, 4294-306 DNA SEQ - 1
+/+ 03 c.154T>C - p.Trp52Arg - RPS19_00020 - Missense mutation transition Impairs ribosomal association but not nucleolar localization - Apparently normal protein levels. Intermediate stability (HEK293) [1] Nucleolar localization, but no ribosome association(HeLa-HEK293) [1] - - - - [1] Angelini et al (2007) Hum Mol Genet 16, 1720-7 pat1rps1900020 f Not available na na - sporadic Willig et al (1999) Blood 94, 4294-306; Niklas Dahl, University Children's Hospital Uppsala, University Children's Hospital – Uppsala DNA SEQ - 1
+/+ 03 c.154T>C - p.Trp52Arg - RPS19_00020 - Missense mutation transition Impairs ribosomal association but not nucleolar localization - Apparently normal protein levels. Intermediate stability (HEK293) [1] Nucleolar localization, but no ribosome association(HeLa-HEK293) [1] - - - - [1] Angelini et al (2007) Hum Mol Genet 16, 1720-7 pat2rps1900020 f Not available na na - familial Willig et al (1999) Blood 94, 4294-306; Niklas Dahl, University Children's Hospital Uppsala, University Children's Hospital – Uppsala DNA SEQ - 1
+/+ 03 c.155G>A - p.Trp52X - RPS19_00005 - Nonsense mutation transition - - - - - - - - - pat1rps1900005 m None no yes - de novo, in patient Willig et al (1999) Blood 94, 4294-306 DNA SEQ - 1
+/+ 03 c.156G>A - p.Trp52X - RPS19_00125 - Nonsense mutation transition - - - - - - - - - pat1rps1900125 m Low hairline, cafe au lait spots na na - ? (unknown) Joerg Meerpohl, Dept. of Pediatric and Adolescent Medicine, University Medical Center Freiburg DNA PCR - 1
+/+? 03 c.156G>C - p.Trp52Cys - RPS19_00021 - Missense mutation transversion - - - - - - - - - pat1rps1900021 m Not available na na - familial Campagnoli et al (2008) Hum Mutat Apr 15 DNA SEQ - 1
+/+ 03 c.166C>T - p.Arg56X - RPS19_00006 - Nonsense mutation CpG - - - - - - - - - pat1rps1900006 f None yes yes - de novo, in patient Willig et al (1999) Blood 94, 4294-306 DNA SEQ - 1
+/+ 03 c.166C>T - p.Arg56X - RPS19_00006 - Nonsense mutation CpG - - - - - - - - - pat3rps1900006 f Not available na na - sporadic U. Ramenghi, Dept. Pediatrics Università di Torino - - - 1
+/+ 03 c.166C>T - p.Arg56X - RPS19_00006 - Nonsense mutation CpG - - - - - - - - - pat4rps1900006 f Not available na na - sporadic U. Ramenghi, Dept. Pediatrics Università di Torino - - - 1
+/+ 03 c.166C>T - p.Arg56X - RPS19_00006 - Nonsense mutation CpG - - - - - - - - - pat2rps1900006 m None na na - sporadic?(parents not tested) Proust et al (2003) Hematol J 4, 132-6 DNA SEQ - 1
+/+ 03 c.167G>A - p.Arg56Gln - RPS19_00023 - Missense mutation; Leucine not effective in increasing translational efficiency in lymphocytes. CpG Impairs ribosomal association but not nucleolar localization - Apparently normal protein levels. Intermediate stability (Cos7-HEK293) [1,2] Nucleolar localization, but no ribosome association(Cos7-HeLa-HEK293) [1,2] - Translation rate reduced to 63% of controls after transfection in K562 cells [3]. In lymphocytes, translation is reduced to 55% of controls both in basal conditions and after PHA activation [3] - translation was found reduced in lymphocytes from all the DBA subjects studied irrespective of the presence of RPS19 mutations [3] [1] Angelini et al (2007) Hum Mol Genet 16, 1720-7; [2] Da Costa et al (2003) Blood 101, 5039-45; [3] Cmejlova et al (2006) Haematologica 91, 1456-64 pat3rps1900023 f None no na - de novo, in patient Willig et al (1999) Blood 94, 4294-306 DNA SEQ - 1
+/+ 03 c.167G>A - p.Arg56Gln - RPS19_00023 - Missense mutation; Leucine not effective in increasing translational efficiency in lymphocytes. CpG Impairs ribosomal association but not nucleolar localization - Apparently normal protein levels. Intermediate stability (Cos7-HEK293) [1,2] Nucleolar localization, but no ribosome association(Cos7-HeLa-HEK293) [1,2] - Translation rate reduced to 63% of controls after transfection in K562 cells [3]. In lymphocytes, translation is reduced to 55% of controls both in basal conditions and after PHA activation [3] - translation was found reduced in lymphocytes from all the DBA subjects studied irrespective of the presence of RPS19 mutations [3] [1] Angelini et al (2007) Hum Mol Genet 16, 1720-7; [2] Da Costa et al (2003) Blood 101, 5039-45; [3] Cmejlova et al (2006) Haematologica 91, 1456-64 pat2rps1900023 m None no na - de novo, in patient Willig et al (1999) Blood 94, 4294-306 DNA SEQ - 1
+/+ 03 c.167G>A - p.Arg56Gln - RPS19_00023 - Missense mutation; Leucine not effective in increasing translational efficiency in lymphocytes. CpG Impairs ribosomal association but not nucleolar localization - Apparently normal protein levels. Intermediate stability (Cos7-HEK293) [1,2] Nucleolar localization, but no ribosome association(Cos7-HeLa-HEK293) [1,2] - Translation rate reduced to 63% of controls after transfection in K562 cells [3]. In lymphocytes, translation is reduced to 55% of controls both in basal conditions and after PHA activation [3] - translation was found reduced in lymphocytes from all the DBA subjects studied irrespective of the presence of RPS19 mutations [3] [1] Angelini et al (2007) Hum Mol Genet 16, 1720-7; [2] Da Costa et al (2003) Blood 101, 5039-45; [3] Cmejlova et al (2006) Haematologica 91, 1456-64 pat8rps1900023 f Not available na na - sporadic Niklas Dahl, University Children's Hospital Uppsala DNA SEQ - 1
+/+ 03 c.167G>A - p.Arg56Gln - RPS19_00023 - Missense mutation; Leucine not effective in increasing translational efficiency in lymphocytes. CpG Impairs ribosomal association but not nucleolar localization - Apparently normal protein levels. Intermediate stability (Cos7-HEK293) [1,2] Nucleolar localization, but no ribosome association(Cos7-HeLa-HEK293) [1,2] - Translation rate reduced to 63% of controls after transfection in K562 cells [3]. In lymphocytes, translation is reduced to 55% of controls both in basal conditions and after PHA activation [3] - translation was found reduced in lymphocytes from all the DBA subjects studied irrespective of the presence of RPS19 mutations [3] [1] Angelini et al (2007) Hum Mol Genet 16, 1720-7; [2] Da Costa et al (2003) Blood 101, 5039-45; [3] Cmejlova et al (2006) Haematologica 91, 1456-64 pat9rps1900023 f Not available na na - sporadic Niklas Dahl, University Children's Hospital Uppsala DNA SEQ - 1
+/+ 03 c.167G>A - p.Arg56Gln - RPS19_00023 - Missense mutation; Leucine not effective in increasing translational efficiency in lymphocytes. CpG Impairs ribosomal association but not nucleolar localization - Apparently normal protein levels. Intermediate stability (Cos7-HEK293) [1,2] Nucleolar localization, but no ribosome association(Cos7-HeLa-HEK293) [1,2] - Translation rate reduced to 63% of controls after transfection in K562 cells [3]. In lymphocytes, translation is reduced to 55% of controls both in basal conditions and after PHA activation [3] - translation was found reduced in lymphocytes from all the DBA subjects studied irrespective of the presence of RPS19 mutations [3] [1] Angelini et al (2007) Hum Mol Genet 16, 1720-7; [2] Da Costa et al (2003) Blood 101, 5039-45; [3] Cmejlova et al (2006) Haematologica 91, 1456-64 pat5rps1900023 f None yes na - familial Cmejla et al (2000) Blood Cells Mol Dis 26, 124-32 DNA SEQ - 1
+/+ 03 c.167G>A - p.Arg56Gln - RPS19_00023 - Missense mutation; Leucine not effective in increasing translational efficiency in lymphocytes. CpG Impairs ribosomal association but not nucleolar localization - Apparently normal protein levels. Intermediate stability (Cos7-HEK293) [1,2] Nucleolar localization, but no ribosome association(Cos7-HeLa-HEK293) [1,2] - Translation rate reduced to 63% of controls after transfection in K562 cells [3]. In lymphocytes, translation is reduced to 55% of controls both in basal conditions and after PHA activation [3] - translation was found reduced in lymphocytes from all the DBA subjects studied irrespective of the presence of RPS19 mutations [3] [1] Angelini et al (2007) Hum Mol Genet 16, 1720-7; [2] Da Costa et al (2003) Blood 101, 5039-45; [3] Cmejlova et al (2006) Haematologica 91, 1456-64 pat6rps1900023 m None yes na - de novo, in patient (paternal allele) Orfali et al (2004) Br J Haematol 125, 243-52 DNA SEQ - 1
+/+ 03 c.167G>A - p.Arg56Gln - RPS19_00023 - Missense mutation; Leucine not effective in increasing translational efficiency in lymphocytes. CpG Impairs ribosomal association but not nucleolar localization - Apparently normal protein levels. Intermediate stability (Cos7-HEK293) [1,2] Nucleolar localization, but no ribosome association(Cos7-HeLa-HEK293) [1,2] - Translation rate reduced to 63% of controls after transfection in K562 cells [3]. In lymphocytes, translation is reduced to 55% of controls both in basal conditions and after PHA activation [3] - translation was found reduced in lymphocytes from all the DBA subjects studied irrespective of the presence of RPS19 mutations [3] [1] Angelini et al (2007) Hum Mol Genet 16, 1720-7; [2] Da Costa et al (2003) Blood 101, 5039-45; [3] Cmejlova et al (2006) Haematologica 91, 1456-64 pat1rps1900023 m None no na - de novo, in patient Willig et al (1999) Blood 94, 4294-306 DNA SEQ - 1
+/+ 03 c.167G>A - p.Arg56Gln - RPS19_00023 - Missense mutation; Leucine not effective in increasing translational efficiency in lymphocytes. CpG Impairs ribosomal association but not nucleolar localization - Apparently normal protein levels. Intermediate stability (Cos7-HEK293) [1,2] Nucleolar localization, but no ribosome association(Cos7-HeLa-HEK293) [1,2] - Translation rate reduced to 63% of controls after transfection in K562 cells [3]. In lymphocytes, translation is reduced to 55% of controls both in basal conditions and after PHA activation [3] - translation was found reduced in lymphocytes from all the DBA subjects studied irrespective of the presence of RPS19 mutations [3] [1] Angelini et al (2007) Hum Mol Genet 16, 1720-7; [2] Da Costa et al (2003) Blood 101, 5039-45; [3] Cmejlova et al (2006) Haematologica 91, 1456-64 pat7rps1900023 f None na na - de novo, in patient Campagnoli et al (2008) Hum Mutat Apr 15 DNA SEQ - 1
+/+ 03 c.167G>A - p.Arg56Gln - RPS19_00023 - Missense mutation; Leucine not effective in increasing translational efficiency in lymphocytes. CpG Impairs ribosomal association but not nucleolar localization - Apparently normal protein levels. Intermediate stability (Cos7-HEK293) [1,2] Nucleolar localization, but no ribosome association(Cos7-HeLa-HEK293) [1,2] - Translation rate reduced to 63% of controls after transfection in K562 cells [3]. In lymphocytes, translation is reduced to 55% of controls both in basal conditions and after PHA activation [3] - translation was found reduced in lymphocytes from all the DBA subjects studied irrespective of the presence of RPS19 mutations [3] [1] Angelini et al (2007) Hum Mol Genet 16, 1720-7; [2] Da Costa et al (2003) Blood 101, 5039-45; [3] Cmejlova et al (2006) Haematologica 91, 1456-64 pat4rps1900023 f None no na - familial Cmejla et al (2000) Blood Cells Mol Dis 26, 124-32 DNA SEQ - 1
+/+ 03 c.169G>C - p.Ala57Pro - RPS19_00024 - Missense mutation transversion Reduces RPS19 protein levels and impairs nucleolar localization - Reduced protein levels. Protein instability (in HEK293 cells) [1] No nucleolar localization, no ribosome association(in Hela and HEK293 cells) [1] - - - - [1] Angelini et al (2007) Hum Mol Genet 16, 1720-7 pat1rps1900024 m None no na - de novo, in patient Orfali et al (2004) Br J Haematol 125, 243-52 DNA SEQ - 1
+/+? 03 c.172G>C - p.Ala58Pro - RPS19_00101 - Missense mutation transition - - - - - - - - - pat1rps1900101 m None yes no - de novo, in patient Lydie Da Costa, Hematology Laboratory, Robert Debré Hospital Paris DNA PCR - 1
+?/? 03 c.172+1G>C - p.0? - RPS19_00104 Intron 3 Donor splice site defect transversion - - - - - - - - - pat1rps1900104 m Not available na no - ? (unknown) Lydie Da Costa, Hematology Laboratory, Robert Debré Hospital Paris DNA PCR - 1
+/? 03 c.172+1G>T - p.0? - RPS19_00087 Intron 3 Donor splice site defect transversion - - - - - - - - - pat1rps1900087 m Triphalangeal thumbs yes yes - sporadic?(parents not tested) Hanna Gazda, Children's Hospital Boston DNA SEQ - 1
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* ABBREVIATIONS *
BM=bone marrow, MNC=mononuclear cells, NMD=nonsense mediated decay


Legend: [ RPS19 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering ('00' indicates all exons). DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Frequency: Frequency of polymorphism. RPS19 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Location: Variant location at DNA level. Remarks: Description of the variant Molecula Mechanisms: Molecular mechanisms Functional_Classific: Effects of RPS19 mutations on its functions. mRNA_Expression: Effects on mRNA expression Protein_Expression: Effects on protein expression Protein_Localization: Protein localization rRNA_Metabolism: Effects on rRNA metabolism Protein_Synthesis: Evaluation of protein synthesis Cell_Growth: Effects on cell growth Functional_Remarks: Functional classification comments Functional_Reference: Functional classification reference Patient ID: Internal reference to the patient. Gender: Patient gender Malformations: Malformations associated to the allelic variant. Growth Retardation: Growth retardation. Steroid Response: Response to steroid treatment. Complications: Medical complications, malignancies Variant Origin: Variant origin Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. # Reported: Number of times this case has been reported

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