ABCC6 p.Met848Val
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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
133
With regard to neutral variation, all three PXE patients were homozygous for four neutral variants, indicating that they shared the same PXE haplotypes (N411N (c.1233 T>C - C allele); V415V (c.1245 G>C - C allele); G800G (c.2400 A>G - G allele); M848V (c.2542 A>G - G allele) and R1314W (T allele)).
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ABCC6 p.Met848Val 19339160:133:246
status: NEW149 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.
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ABCC6 p.Met848Val 19339160:149:940
status: NEW
PMID: 21397982
[PubMed]
Bercovitch L et al: "Acquired pseudoxanthoma elasticum presenting after liver transplantation."
No.
Sentence
Comment
87
Analysis disclosed amino acid changing variants p.Ala158Val (c.437C[T) in exon 4, and HapMap polymorphism p.Met848Val (c.2542A[G) in exon 20. p.Ala158Val is a pseudogene variant that may have been detected as a result of nonspecific PCR product, whereas V848 is the vastly more common allele at this position.
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ABCC6 p.Met848Val 21397982:87:108
status: NEW