ABCC7 p.Met469Ile

ClinVar: c.1407G>T , p.Met469Ile ? , not provided
c.1405A>G , p.Met469Val ? , not provided
CF databases: c.1405A>G , p.Met469Val (CFTR1) ? ,
Predicted by SNAP2: A: N (66%), C: N (66%), D: D (71%), E: D (63%), F: D (53%), G: D (53%), H: N (57%), I: N (61%), K: N (78%), L: N (66%), N: N (61%), P: D (66%), Q: N (78%), R: N (66%), S: N (78%), T: N (57%), V: N (66%), W: D (80%), Y: N (53%),
Predicted by PROVEAN: A: N, C: D, D: N, E: N, F: D, G: D, H: N, I: N, K: N, L: N, N: N, P: D, Q: N, R: N, S: N, T: N, V: N, W: D, Y: D,

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[hide] Wu CC, Alper OM, Lu JF, Wang SP, Guo L, Chiang HS, Wong LJ
Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens.
Hum Reprod. 2005 Sep;20(9):2470-5. Epub 2005 May 19., [PMID:15905293]

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[hide] Hojati Z, Heidari S, Motovali-Bashi M
Exon 10 CFTR gene mutation in male infertility.
Iran J Reprod Med. 2012 Jul;10(4):315-20., [PMID:25246892]

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