ABCC7 p.Lys481Glu
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PMID: 16189704
[PubMed]
McGinniss MJ et al: "Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples."
No.
Sentence
Comment
7
We ascertained ten novel sequence variants that are potentially disease-associated: two deletions (c.1641AG>T, c.2949_2853delTACTC), seven missense mutations (p.S158T, p.G451V, p.K481E, p.C491S, p.H949L, p.T1036N, p.F1099L), and one complex allele ([p.356_A357del; p.358I]).
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ABCC7 p.Lys481Glu 16189704:7:179
status: NEW86 Three novel missense mutations (p.S158T, p.K481E and p.H949L) are consistent with being disease-associated alleles, but the evidence for this was not as strong as for the three previously mentioned.
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ABCC7 p.Lys481Glu 16189704:86:43
status: NEW