ABCMdb

ABCC6 p.Arg1064Trp

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Publications

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

No. Sentence Comment

35 We found three missense mutations in our patients with sCAD (H623Q, R1064W and R1268Q). Login to comment
45 However, the R1141X muTable ABCC6sequencevariationin12patientswithsCADand2patientswithPXE exon nucleotide Amino-acid Occurrence Occurrence position change among patients among controls 10 1233T¡C synonymous sCAD not tested 10 1245G¡A synonymous sCAD not tested 15 1890C¡G synonymous sCAD not tested 15 1896C¡A H623Q sCAD + 19 2490C¡T synonymous sCAD not tested 20 2631C¡A synonymous sCAD not tested 22 2835C¡T synonymous sCAD not tested 22 2836C¡A L946I PXE - 23 3190C¡T R1064W sCAD + 24 3389C¡T T1130M PXE - 27 3803G¡A R1268Q sCAD + tation is common in European patients, whereas a large deletion of exons 23-26 is repeatedly found in patients from the United States [22]. Login to 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: 25062064 [PubMed] Hosen MJ et al: "Molecular docking simulations provide insights in the substrate binding sites and possible substrates of the ABCC6 transporter."

No. Sentence Comment

230 (Asp1056Glu) R1064 3190C.T R1064W Missense 23 p. Login to comment
231 (Arg1064Trp) G1203 3608G.A G1203D Missense 25 p. Login to comment