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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
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
00 deletion of a complete allele (III) - p.0 - RPS19_00069 - Large deletion; haploinsufficiency - - - - - - - - - -
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
00 deletion of a complete allele (V) - p.0 - RPS19_00089 - Large deletion; haploinsufficiency - - - - - - - - - -
00 deletion of a complete allele (VI) - p.0 - RPS19_00094 - Large deletion; haploinsufficiency - - - - - - - - - -
00 t(1;19)(p32;q13) - p.0 - RPS19_00080 - Translocation - - - - - - - - - -
00 t(8;19)(q35;q13) - p.0 - RPS19_00079 - Translocation - - - - - - - - - -
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
02 c.1-2A>T
  (Reported 2 times)		 - p.0? - RPS19_00086 Intron 1 Acceptor splice site defect transversion - - - - - - - - -
02 c.1-1G>A - p.0 - RPS19_00065 Intron 1 Acceptor splice site defect transition - - - - - - - - -
02 c.1-1G>C - p.0? - RPS19_00126 Intron 1 Acceptor splice site defect transversion - - - - - - - - -
02 c.1-1G>T - p.0 - RPS19_00064 Intron 1 Acceptor splice site defect transversion - - - - - - - - -
02 c.1A>G
  (Reported 5 times)		 - 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
02 c.2T>A - p.Met? - RPS19_00095 - Missense mutation transversion - - - - - - - - -
02 c.3G>A
  (Reported 4 times)		 - p.Met1Ile - RPS19_00014 - Missense mutation transition - - - - - - - - -
02 c.3G>C - p.Met1Ile - RPS19_00012 - Missense mutation transversion - - - - - - - - -
02 c.3G>T
  (Reported 5 times)		 - p.Met1Ile - RPS19_00013 - Missense mutation transversion - - - - - - - - -
02 c.10_13delGTTA - p.Val4LeufsX2 - RPS19_00091 - Deletion - - - - - - - - - -
02 c.13_14insA
  (Reported 2 times)		 - 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
02 c.14delC - p.Thr5MetfsX2 - RPS19_00096 - Deletion - - - - - - - - - -
02 c.20_32del - p.Lys7SerfsX18 - RPS19_00038 - Deletion - - - - - - - - - -
02 c.25_42del - p.Val9_Phe14del - RPS19_00039 - Deletion - - - - - - - - - -
02 c.28_29insT - p.Asn10IlefsX41 - RPS19_00114 - Insertion - - - - - - - - - -
02 c.31C>T
  (Reported 5 times)		 - 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
02 c.34C>T
  (Reported 3 times)		 - 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
02 c.34_47del - p.Gln12SerfsX34 - RPS19_00115 - Deletion - - - - - - - - - -
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
02 c.43G>T
  (Reported 2 times)		 - 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
02 c.49G>C - p.Ala17Pro - RPS19_00098 - Missense mutation transversion - - - - - - - - -
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
02 c.53T>G - p.Leu18Arg - RPS19_00017 - Missense mutation transversion - - - - - - - - -
02 c.53_54insAGA - p.Leu18_Ala19insGlu - RPS19_00041 - Insertion - - - - - - - - - -
02 c.58delG - p.Ala20ProfsX9 - RPS19_00042 - Deletion - - - - - - - - - -
02 c.58G>C - p.Ala20Pro - RPS19_00112 - Missense mutation transversion - - - - - - - - -
02 c.62T>C - p.Phe21Ser - RPS19_00018 - Missense mutation transition - - - - - - - - -
02 c.71+1G>A
  (Reported 2 times)		 - p.0 - RPS19_00066 Intron 2 Donor splice site defect transition - - - - - - - - -
02 c.71+1G>C - p.0? - RPS19_00097 Intron 2 Donor splice site defect transversion - - - - - - - - -
02 c.71+3_71+6delGAGT - p.0 - RPS19_00068 Intron 2 Donor splice site defect - - - - - - - - - -
03 LOH 3' to exon 3 - p.0 - RPS19_00083 - Intragenic deletion - - - - - - - - - -
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
03 c.72-1G>A - p.0? - RPS19_00116 Intron 2 Acceptor splice site defect transition - - - - - - - - -
03 c.83T>G - p.Leu28Arg - RPS19_00103 - Missense mutation transition - - - - - - - - -
03 c.88delG - p.Val30SerfsX46 - RPS19_00117 - Deletion - - - - - - - - - -
03 c.93delC - p.Glu32AsnfsX44 - RPS19_00100 - Deletion slippage - - - - - - - - -
03 c.98G>A
  (Reported 2 times)		 - p.Trp33X - RPS19_00003 - Nonsense mutation transition - - - - - - - - -
03 c.103dupG - p.Asp35GlyfsX16 - RPS19_00102 - Insertion slippage - - - - - - - - -
03 c.104_105insA
  (Reported 2 times)		 - 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
03 c.106_107insA
  (Reported 2 times)		 - 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
03 c.112A>T - p.Lys38X - RPS19_00090 - Nonsense mutation transversion - - - - - - - - -
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
03 c.140C>T
  (Reported 2 times)		 - 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
03 c.144C>A - p.Tyr48X - RPS19_00004 - Nonsense mutation transversion - - - - - - - - -
03 c.154T>C
  (Reported 2 times)		 - 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
03 c.155G>A - p.Trp52X - RPS19_00005 - Nonsense mutation transition - - - - - - - - -
03 c.156G>A - p.Trp52X - RPS19_00125 - Nonsense mutation transition - - - - - - - - -
03 c.156G>C - p.Trp52Cys - RPS19_00021 - Missense mutation transversion - - - - - - - - -
03 c.166C>T
  (Reported 4 times)		 - p.Arg56X - RPS19_00006 - Nonsense mutation CpG - - - - - - - - -
03 c.167G>A
  (Reported 9 times)		 - 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
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
03 c.172G>C - p.Ala58Pro - RPS19_00101 - Missense mutation transition - - - - - - - - -
03 c.172+1G>C - p.0? - RPS19_00104 Intron 3 Donor splice site defect transversion - - - - - - - - -
03 c.172+1G>T
  (Reported 2 times)		 - p.0? - RPS19_00087 Intron 3 Donor splice site defect transversion - - - - - - - - -
04 LOH 5' to exon 4 - p.0 - RPS19_00084 - Intragenic deletion - - - - - - - - - -
04 c.173-7_174del - p.0? - RPS19_00118 Intron 3/Exon 4 Deletion - - - - - - - - - -
04 c.173-2A>G - p.0? - RPS19_00105 Intron 3 Acceptor splice site defect transition - - - - - - - - -
04 c.173-2A>T - p.Ala58_Thr60del - RPS19_00070 Intron 3 Acceptor splice site defect transversion - - - - - - - - -
04 c.173-1delG - p.Ala58_Thr60del - RPS19_00071 Intron 3 Acceptor splice site defect transversion - - - - - - - - -
04 c.173-1G>A - p.Ala58_Thr60del - RPS19_00072 Intron 3 Acceptor splice site defect transition Unclassified Normal mRNA levels (peripheral blood MNC) [1] - - - - - - [1] Gazda et al (2004) Br J Haematol 127, 105-13
04 c.176C>T - p.Ser59Phe - RPS19_00025 - Missense mutation transition - - - - - - - - -
04 c.178A>C - p.Thr60Pro - RPS19_00092 - Missense mutation transversion - - - - - - - - -
04 c.182C>A - p.Ala61Glu - RPS19_00026 - Missense mutation; the pathogenic role for this mutation was questioned by some authors [Léger-Silvestre et al (2005) J Biol Chem 280, 38177-85] 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] The yeast orthologue mutation (p.Ala62Ser) does not influence 21S/18S ratio [2] - The yeast orthologue mutation (p.Ala62Ser) does not influence the ability of Rps19A protein to support cell growth [2] - [1] Angelini et al (2007) Hum Mol Genet 16, 1720-7; [2] Léger-Silvestre et al (2005) J Biol Chem 280, 38177-85
04 c.184C>T
  (Reported 13 times)		 - p.Arg62Trp - RPS19_00027 - Missense mutation CpG Impairs ribosomal association but not nucleolar localization Normal mRNA levels (BM CD34+ and peripheral blood MNC) [1] Apparently normal protein levels [2,3]. Intermediate stability and increased degradation, partly mediated by proteasome (Cos7-HEK293) [2] Nucleolar localization, but no ribosome association(Cos7-HeLa-HEK293) [2,3] The yeast orthologue mutation (R63Q) causes 18S rRNA processing defect, as indicated by increase in 21S rRNA and nucleolar accumulation of pre-40S particles [4] - The yeast orthologue mutation (p.Arg63Gln) impairs cell growth in yeast [4] - [1] Hamaguchi et al (2002) Blood 100, 2724-31; [2] Angelini et al (2007) Hum Mol Genet 16, 1720-7; [3] Da Costa et al (2003) Blood 101, 5039-45; [4] Léger-Silvestre et al (2005) J Biol Chem 280, 38177-85
04 c.185G>A
  (Reported 9 times)		 - p.Arg62Gln - RPS19_00028 - 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 (HEK293) [1] Nucleolar localization, but no ribosome association (HeLa-HEK293) [1]. It alters the ultrastructural nucleolar organization in dermal fibroblasts [2] 18S rRNA processing defect both in yeast (orthologue mutation: p.Arg63Gln) and in human dermal fibroblasts, as indicated by increase in 21S pre-rRNA [2,3]. Accumulation of 45S and 41S precursors is observed in dermal fibroblasts [2]; yeast cells show nucleolar accumulation of pre-40S particles [3] Translation rate reduced to 56% of controls after transfection in K562 cells [4]. In lymphocytes, translation is reduced to 66% of controls in basal conditions and to 62% after PHA activation [4] The human mutation impairs growth of skin fibroblasts [2] and the yeast orthologue mutation (p.Arg63Gln) impairs but does not abolish cell growth in yeast [3] translation was found reduced in lymphocytes from all the DBA subjects studied irrespective of the presence of RPS19 mutations [4] [1] Angelini et al (2007) Hum Mol Genet 16, 1720-7; [2]Choesmel et al (2007) Blood 109, 1275-83; [3] Léger-Silvestre et al (2005) J Biol Chem 280, 38177-85; [4] Cmejlova et al (2006) Haematologica 91, 1456-64
04 c.187_189insCAC - p.His63dup - RPS19_00119 - Insertion slippage - - - - - - - - -
04 c.191T>C - p.Leu64Pro - RPS19_00029 - Missense mutation transition Unclassified - - - The yeast orthologue mutation (p.Ile65Pro) causes 18S rRNA processing defect, as indicated by increase in 21S rRNA and nucleolar accumulation of pre-40S particles [1] - The yeast orthologue mutation (p.Ile65Pro) abolishes the ability of Rps19A protein to support cell growth [1] - [1] Léger-Silvestre et al (2005) J Biol Chem 280, 38177-85
04 c.195C>G
  (Reported 2 times)		 - p.Tyr65X - RPS19_00111 - Nonsense mutation transversion - - - - - - - - -
04 c.197_207del - p.Leu66ArgfsX84 - RPS19_00046 - Deletion; Leucine not effective in increasing translational efficiency in lymphocytes. - Reduces RPS19 protein levels and impairs nucleolar localization - Protein instability [1] No nucleolar localization [1] - Cellular translation rate is not affected in K562 cells, but translation is reduced in patient\\\'s lymphocytes (basal translation: 60% , activated translation: 50%) [1] - translation was found reduced in lymphocytes from all the DBA subjects studied irrespective of the presence of RPS19 mutations [1] [1] Cmejlova et al (2006) Haematologica 91, 1456-64
04 c.203_204insG - p.Gly69TrpfsX85 - RPS19_00109 - Insertion slippage - - - - - - - - -
04 c.212G>A - p.Gly71Glu - RPS19_00120 - Missense mutation transition - - - - - - - - -
04 c.222delC - p.Met75X - RPS19_00047 - Nonsense mutation slippage - - - - - - - - -
04 c.226A>C - p.Thr76Pro - RPS19_00030 - Missense mutation transversion - - - - - - - - -
04 c.233_250del - p.Ile78_Gln83del - RPS19_00048 - Deletion - - - - - - - - - -
04 c.242_243insG - p.Arg82ThrfsX72 - RPS19_00049 - Insertion slippage - - - - - - - - -
04 c.250_251delAG - p.Arg84LysfsX69 - RPS19_00050 - Deletion slippage - - - - - - - - -
04 c.250_251insA - p.Arg84LysfsX70 - RPS19_00051 - Insertion slippage - - - - - - - - -
04 c.274_304del - p.Phe92GlyfsX9 - RPS19_00052 - Deletion - - - - - - - - - -
04 c.280C>T
  (Reported 10 times)		 - p.Arg94X - RPS19_00007 - Nonsense mutation CpG - - - - - - - - -
04 c.281G>T - p.Arg94Leu - RPS19_00088 - Missense mutation transversion - - - - - - - - -
04 c.284delG - p.Gly95AlafsX16 - RPS19_00121 - Deletion slippage - - - - - - - - -
04 c.289_290insAGGC - p.Lys97ArgfsX58 - RPS19_00122 - Insertion - - - - - - - - - -
04 c.295_296delGT - p.Val99GlyfsX54 - RPS19_00053 - Deletion slippage - - - - - - - - -
04 c.296_297delTG - p.Val99GlyfsX54 - RPS19_00123 - Deletion slippage - - - - - - - - -
04 c.301C>T - p.Arg101Cys - RPS19_00124 - Missense mutation CpG - - - - - - - - -
04 c.302G>A
  (Reported 7 times)		 - p.Arg101His - RPS19_00031 - Missense mutation CpG Impairs ribosomal association but not nucleolar localization Normal mRNA levels (peripheral blood MNC) [1] Apparently normal protein levels. Intermediate stability and increased degradation, partly mediated by proteasome (HEK293) [2] Nucleolar localization, but no ribosome association (HeLa-HEK293) [2]. - - - - [1] Gazda et al (2004) Br J Haematol 127, 105-13; [2] Angelini et al (2007) Hum Mol Genet 16, 1720-7
04 c.305G>C - p.Arg102Pro - RPS19_00106 - Missense mutation transversion - - - - - - - - -
04 c.307delG - p.Val103SerfsX8 - RPS19_00054 - Deletion slippage - - - - - - - - -
04 c.320T>G - p.Leu107Arg - RPS19_00107 - Missense mutation transversion - - - - - - - - -
04 c.328delC - p.Leu110X - RPS19_00055 - Deletion - - - - - - - - - -
04 c.338_340delTGG - p.Val113del - RPS19_00143 - Deletion - - - - - - - - - Aspesi et al (2018) Hum Mutat in press
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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.
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

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