ABCMdb

ABCC6 p.His632Gln

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Publications

PMID: 11536079 [PubMed] Le Saux O et al: "A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum."

No. Sentence Comment

153 Three of the neutral variants (K281E, I319V, and H632Q) could not be detected by SSCP or CSGE. Login to comment
155 The frequencies of K281E, I319V, and H632Q in our PXE cohort and control panel were, consequently, not assessed. Login to comment

PMID: 12384774 [PubMed] Le Saux O et al: "Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa."

No. Sentence Comment

92 Six other variants (G61D, K281E, I319V, V614A, H632Q and R1268Q) resulted in amino acid changes but appeared not to segregate with the disease in PXE pedigrees and were therefore likely to be neutral. Login to comment

PMID: 12673275 [PubMed] Hu X et al: "ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum."

No. Sentence Comment

159 Table 4 Polymorphic sequence changes identified in ABCC6 Nucleotide Amino acid Location Estimated frequency (%) CA(18) F Intron4 68 V415V 1245G>A 10 33 V614A 1841T>C 14 52 T630T 1890C>G 15 22 H632Q 1896C>A 15 24 A830G 2490C>G 19 25 P945P 2846C>T 22 50 L968L 2904G>A 22 20 Int(22) F Intron22 50 R1268Q 3808G>A 27 38 The definition of disease-associated alleles essentially follows the criteria described by Le Saux et al.22 In summary, sequence variants predicted to result in nonsense or splice-site changes were considered to be disease-associated alleles if they are absent in DNA of a panel of at least 100 controls. Login to comment

PMID: 12714611 [PubMed] Hu X et al: "Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum."

No. Sentence Comment

104 Three of these were used in this study to construct the following haplotypes: (1) 1896 C3A in exon 15 predicting an H632Q substitution, (2) 2490 C3G in exon 19 predicting an A830G substitution, and (3) 3803 G3A in exon 27 predicting a R1268Q substitution. Login to comment

PMID: 12928920 [PubMed] Morcher M et al: "Heterozygous carriers of Pseudoxanthoma elasticum were not found among patients with cervical artery dissections."

No. Sentence Comment

51 Several missense mutations (H632Q in exon 15, R1064W in exon 23 and R1268Q in exon 27) were found. Login to comment

PMID: 16086317 [PubMed] Miksch S et al: "Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6."

No. Sentence Comment

209 Type and Frequency of Polymorphisms in ABCC6 Identi'ed in170 Chromosomes of 81 PXE FamiliesÃ Exon/ Intron Nucleotide substitution Amino acid change Location Frequency (] of families) Referencea E 03 c.232G4A p.A78T ABCC6-C2 81 This study, (C,H) IVS 03 c.345112T4C Intron duplication 81 This study IVS 03 c.345126C4T Intron 1 This study IVS 03 c.346À6G4A Intron 10 This study, (C) E 04 c.373G4A p.E125K ABCC6-C1 81 This study, (C) E 04 c.473C4T p.A158V ABCC6-C2 81 This study, (C) IVS 04 c.474113 G4A Intron duplication 2 This study IVS 04 c.474143C4T Intron duplication 80 This study, (C) IVS 04 c.475À76A4C Intron duplication 81 This study IVS 04 c.475À45C4T Intron 3 This study IVS 04 c.475À22T4C Intron duplication 80 This study, (C) E 05 c.549G4A L183L ABCC6 2 This study, (E) IVS 05 c.600123C4T Intron 1 This study E 06 c.645G4A T215T ABCC6 8 This study, (C) IVS 06 c.662112C4T Intron 1 This study, (C) E 07 c.793A4G R265G ABCC6-C1 81 This study, (C,H) IVS 07 c.794136A4C Intron duplication 81 This study, (C) E 08 c.841A4G K281E ABCC6-Cx 81 This study, (H) E 08 c.855C4T T285T ABCC6-C1 81 This study, (C) E 08 c.955A4G I319V ABCC6-Cx 81 This study, (H) E 09 c.1077A4G S359S ABCC6, ABCC6-C1 1 This study, (C,H) E 09 c.1132C4T Q378X ABCC6-C1 81 This study, (C,H) E 09 c.1141T4C L381L ABCC6, ABCC6-C1 81 This study, (C,H) IVS 09 c.117616C4T No SSM Intron 1 This study E 10 c.1233T4C N411N ABCC6 1 This study, (B,L) E 10 c.1245G4A V415V ABCC6 Frequent This study, (B,L) IVS 10 c.133817C4G Intron Frequent This study IVS 10 c.1338120C4G Intron Frequent This study IVS 10 c.1338162G4C Intron Frequent This study IVS 11 c.1432À41A4G Intron Frequent This study, (E) E 12 c.1540G4A V514I ABCC6 1 This study IVS 12 c.1635147C4T Intron Frequent This study E 14 c.1841T4C V614A ABCC6 Frequent This study, (B,E) IVS 14 c.1868À57G4A Intron 3 This study E 15 c.1890C4G T630T ABCC6 Frequent This study, (B,L) E 15 c.1896C4A H632Q ABCC6 Frequent This study, (C,G) E 17 c.2171G4A R724K ABCC6 2 This study E 17 c.2175A4T V725V ABCC6 2 This study E 17 c.2224A4G I742V ABCC6 2 This study E 19 c.2490C4T A830A ABCC6 Frequent This study, (E) E 22 c.2820T4G R940R ABCC6 1 This study E 22 c.2835C4T P945P ABCC6 8 This study, (J) E 22 c.2836C4A L946I ABCC6 3 This study E 22 c.2904G4A L968L ABCC6 1 This study, (J) E 23 c.3190C4T R1064W ABCC6 2 This study IVS 24 c.3507À16T4C No SSM Intron 4 This study IVS 24 c.3507À3C4T No SSM Intron 3 This study E 27 c.3803G4A R1268Q ABCC6 Frequent This study, (C,M) IVS 27 c.3883À24G4A Intron 1 This study IVS 28 c.4041149C4T Intron Frequent This study, (E) IVS 28 c.4042À30C4T Intron Frequent This study IVS 29 c.420819G4A Intron 2 This study E 30 c.4305C4T G1435G ABCC6 1 This study IVS 30 c.4405À31G4A Intron Frequent This study 30 UTR c.4512117G4A UTR 5 This study, (E) 30 UTR c.4512138G4A UTR 1 This study ÃDNA mutation numbering is based on the ABCC6 cDNA sequence (GenBank accession no. AF076622.1) and 11 corresponds to the A of the ATG translation initiation codon of the reference sequence. Login to comment
199 Coding sequence SNPs were considered as neutral (non-disease-causing) when they resulted in a synonymous amino acid substitution or a nonsynonymous substitution that did not cosegregate with the disease haplotype and phenotype (p.V614A, p.R724K, p.I742V, p.L946I, p.R1064W, and p.R1268Q) or did cosegregate with other PXE mutations in linkage disequilibrium in individual families (p.V514I, p.H632Q, and p.R1268Q). Login to comment

PMID: 19339160 [PubMed] Ramsay M et al: "Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals."

No. Sentence Comment

149 998+13C>T - Intron - 1 - This study E 10 c.1233T>C N411N CL3 1 2 1 [32,35] rs9930886 E 10 c.1245G>A V415V CL4 - 2 - [32,35] rs9940825 E 10 c.1249G>A V417M CL4 5 - - This study IVS 10 c.1338+7C>G - Intron - 5 - [32] rs9940089 E 11 c.1344G>A L448L EL5 - 2 - This study IVS 11 c.1432-41A>C - Intron 3 1 2 [7,32] rs2239322 IVS 11 c.1432-45C>T - Intron - - 2 [11] No rs number IVS 11 c.1432-48G>A - Intron 7 - 8 dbSNP rs7193932 E 12 c.1494G>A K499K CL4 - - 1 This study IVS 12 c.1635+48C>T** - Intron 7 - - [32] ENSSNP11084760 E 14 c.1841T>C V614A CL5 15 2 3 [7,32,35] rs12931472 E 15 c.1890C>G T630T CL5 6 3 1 [32,35] rs8058696 E 16 c.1896C>A H632Q CL5 - 3 1 [31,32,36] rs8058694 E 17 c.2171G>A*** R724L NBF1 - 1 - [32] No rs number E 17 c.2175A>T V725V NBF1 - 2 - [32] No rs number E 17 c.2224A>G I742V NBF1 - 1 - [32] No rs number E 18 c.2400A>G G800G NBF1 1 2 - dbSNP rs7500834 E 19 c.2490C>T A830A CL6 3 - - [7,32] rs9924755 E 19 c.2542A>G M848V CL6 1 3 - dbSNP rs6416668 E 22 c.2835C>T P945P TS12 1 2 1 [32,37] rs2856585 E 22 c.2836C>A L946I TS12 1 - - This studya IVS 24 c.3507-16T>C - Intron 3 2 - [11,32] rs3213471 a L946I was previously identified as a pathogenic mutation by Morcher et al. [38], in this study bioinformatic analysis of the variant did not support a functional effect of the variant on the protein. Login to comment

PMID: 19284998 [PubMed] Sato N et al: "Novel mutations of ABCC6 gene in Japanese patients with Angioid streaks."

No. Sentence Comment

84 We identified 8 nonsynonymous variants and a deletion variant in the exon regions; p.R419Q (Exon10), p.S587C (exon13), p.V614A (Exon14), p.H632Q (Exon15), c.2542delG (Exon19), p.A950V (Exon22), p.R1268Q (Exon27) and p.E1427K (Exon30). Login to comment
104 Disease-causing mutations The homozygous p.R419Q and the homozygous p.R1268Q were found in 2 subjects with the homozygous GTGG/GTGG diplotype. The homozygous c.2542delG and the homozygous p.H632Q or homozygous p.V614A were found in each subject with the homozygous ATGA/ATGA diplotype. The homozygous Del_Exon23 was found in 2 subjects with the homozygous GTGA/GTGA diplotype. Login to comment
106 The heterozygous p.E1427K and p.V614A or p.H632Q or p.R1268Q were found in a subject with the heterozygous GTAA/ATGG diplotype. The heterozygous c.2542delG and p.V614A or p.H632Q were found in a subject with the heterozygous GTAA/ACAA diplotype. The heterozygous p.S587C was found in a subject with the heterozygous GTGA/GCGA diplotype, and the heterozygous p.A950V was found in a subject with the heterozygous GTAA/GCAA diplotype. Login to comment
109 Consequently, p.S587C (exon13), p.V614A (Exon14), p.H632Q (Exon15), p.A950V (Exon22) and p.R1268Q (Exon27) were excluded from among the disease-causing mutations because they were seen in the control group. Login to comment
110 Of the 9 variants, p.V614A, p.H632Q and p.R1268Q were previously reported as non-causal variants for PXE. Although c.2542delG (Exon19) was seen in the control group, this is defined as the disease-causing mutation because it yields a premature stop codon. Login to comment
157 Exon Mutation AS Control Decision Wild/Wild Wild/Mut Mut/Mut Wild/Wild Wild/Mut Mut/Mut Undetermine 10 c.1256G>A (p.R419Q) 45 3 6 150 0 0 0 * 10 c.1264G>A (p.E422K) 53 1 0 150 0 0 0 * 10 c.1283A>G (p.N428S) 54 0 0 148 2 0 0 # 10 c.1312G>A (p.V438M) 54 0 0 149 1 0 0 # 13 c.1760C>G (p.S587C) 53 1 0 149 1 0 0 # 14 c.1841T>C (p.V614A) 40 12 2 89 56 5 0 $ 15 c.1896C>A (p.H632Q) 30 15 9 90 55 5 0 $ 19 c.2542delG 34 13 7 149 1 0 0 * 22 c.2849C>T (p.A950V) 53 1 0 149 1 0 0 # 23 Del_Exon23 52 0 2 150 0 0 0 * 27 c.3803G>A (p.R1268Q) 29 16 9 105 42 3 0 $ 27 c.3774-3775insertC 53 1 0 147 0 0 3 * 30 c.4279G>A (p.E1427K) 53 1 0 150 0 0 0 * For ABCC6 proteins, the designations for the mutations refer to the position of the amino acid substitution, where amino acid terminus. Nonsynonymous variants were shown by the amino acid numbers started by the strat codon methionine. The cDNA base numbers refer to the nucleotide in the cDNA, where nucleotide 1 is the A of the first ATG. * Causal mutation definitely. Login to comment