ABCC7 p.Asp58Cys

ClinVar: c.172G>A , p.Asp58Asn ? , not provided
c.173A>G , p.Asp58Gly ? , not provided
CF databases: c.172G>A , p.Asp58Asn (CFTR1) D , Missense mutations D58N was found in a CBAVD patient with an yet unidentified mutation on his other allele.
c.173A>G , p.Asp58Gly (CFTR1) D , This putative mutation was detected by DGGE and identified by DNA fluorescent sequencing in a CBAVD patient from Tunisia, who is heterozygous for the mutation N1303K.
Predicted by SNAP2: A: N (53%), C: N (53%), E: N (72%), F: D (63%), G: D (53%), H: N (53%), I: D (63%), K: D (71%), L: D (66%), M: D (63%), N: N (72%), P: D (71%), Q: D (53%), R: D (66%), S: N (53%), T: N (66%), V: D (63%), W: D (66%), Y: D (63%),
Predicted by PROVEAN: A: N, C: D, E: N, F: D, G: D, H: D, I: D, K: N, L: D, M: D, N: N, P: N, Q: N, R: N, S: N, T: N, V: D, W: D, Y: D,

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[hide] Fu J, Kirk KL
Cysteine substitutions reveal dual functions of the amino-terminal tail in cystic fibrosis transmembrane conductance regulator channel gating.
J Biol Chem. 2001 Sep 21;276(38):35660-8. Epub 2001 Jul 23., 2001-09-21 [PMID:11468285]

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