ABCC6 p.Gly1501Ser

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PMID: 17617515 [PubMed] Pfendner EG et al: "Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum."
No. Sentence Comment
277 Finally, there is the possibility that mutations in genes other than ABCC6 can Nucleotide change*À Predicted consequenceÀ Frequency (alleles) Exon-intron location Domain affected` Mutant alleles (%) References1 c.4041gRc p.Q1347H 1 28 NBF2 0.3 25 c.4104delC FS 1 29 0.3 25 c.4192cRt p.R1398X 2 29 0.6 25 c.4335delG FS 1 30 0.3 c.4441gRa p.G1481S 1 31 NBF2 0.3 c.4501gRa p.G1501S 1 31 NBF2 0.3 Ex23_29del p.A999_S1403del 57 23-29 18.0 15, 18, 21, 25, 27, 28, 31, 32, 37, 44, 45 FS, frameshift; IC, intracellular domain; IVS, intron; NBF, nucleotide binding fold; SJ, splice junction; TM, transmembrane domain.
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ABCC6 p.Gly1501Ser 17617515:277:382
status: NEW
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PMID: 24840500 [PubMed] Xue P et al: "Regulation of ABCC6 trafficking and stability by a conserved C-terminal PDZ-like sequence."
No. Sentence Comment
189 The PXE-associate G1501S site is highlighted in red.
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ABCC6 p.Gly1501Ser 24840500:189:18
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345 However, a single PXE patient in which the G1501S mutation was found was reported to show phenotypic abnormalities in the eye (bleeding/scarring) and mild presentation in the skin (papules/bumps), but presented without apparent GI, vascular or cardiac symptoms.
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ABCC6 p.Gly1501Ser 24840500:345:43
status: NEW
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