ABCC7 p.Phe87Leu

ClinVar: c.259T>C , p.Phe87Leu ? , not provided
c.259T>A , p.Phe87Ile ? , not provided
CF databases: c.259T>C , p.Phe87Leu (CFTR1) D , This mutation in exon 3, was found in one French patient with CF. This mutation was detected by DGGE using chemical clamps and identified by direct sequencing : F87L (T->C at position 391). This mutation has been found in one among 50 non-[delta]F508 CF chromosomes. This patient has [delta]F508 mutation on the other chromosome.
c.259T>A , p.Phe87Ile (CFTR1) D , The above mutation was identified by SSCP analysis and characterized by direct DNA sequencing. This mutation was detected in infertile male with congenital bilateral absence of vas deferens. Mutation on other allele was Delta F508 mutation. This mutation was not found on 100 non-CF chromosomes.
c.260T>C , p.Phe87Ser (CFTR1) ? ,
Predicted by SNAP2: A: D (91%), C: D (80%), D: D (95%), E: D (95%), G: D (95%), H: D (95%), I: D (75%), K: D (95%), L: D (53%), M: D (80%), N: D (95%), P: D (95%), Q: D (95%), R: D (95%), S: D (95%), T: D (95%), V: D (80%), W: D (95%), Y: D (91%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, G: D, H: D, I: N, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: N, W: N, Y: N,

[switch to compact view]
Comments [show]
Publications
[hide] Enquist K, Fransson M, Boekel C, Bengtsson I, Geiger K, Lang L, Pettersson A, Johansson S, von Heijne G, Nilsson I
Membrane-integration characteristics of two ABC transporters, CFTR and P-glycoprotein.
J Mol Biol. 2009 Apr 17;387(5):1153-64. Epub 2009 Feb 21., [PMID:19236881]

Abstract [show]
Comments [show]
Sentences [show]