ABCC7 p.Arg117Met

ClinVar: c.350G>C , p.Arg117Pro ? , not provided
c.349C>G , p.Arg117Gly ? , not provided
c.350G>T , p.Arg117Leu ? , not provided
c.349C>T , p.Arg117Cys D , Pathogenic
c.350G>A , p.Arg117His D , Pathogenic
CF databases: c.350G>A , p.Arg117His ? , Varying clinical consequence ; CFTR1:
c.349C>T , p.Arg117Cys D , CF-causing ; CFTR1: The haplotype is 2-1-1-2 (XV2c-KM19-D9-J44) with seven GATT repeats. The mutation creates a new Bsml site.
c.349C>G , p.Arg117Gly (CFTR1) ? , Was reported previously in one study of CBAVD. R117G/UND 7T/9T (Daudin et al., Fertility and Sterility, 74:1164-1174, 2000).
c.350G>C , p.Arg117Pro (CFTR1) ? , A new missense mutation was found in exon 4 : R 117 P. The mutation was detected by DGGE analysis and identified by remplacement of an arginine residue by a proline at codon 117. The mutation creates new MnlI and NlaIV sites. The mutation was identified in one french CF chromosome. The patient has a mild lung disease and is sufficient pancreatic.
c.350G>T , p.Arg117Leu (CFTR1) ? , This mutation was identified by DGGE and direct sequencing and was identified on one CF chromosome of Italian origin.
Predicted by SNAP2: A: D (91%), C: D (63%), D: D (95%), E: D (95%), F: D (91%), G: D (95%), H: N (53%), I: D (85%), K: D (95%), L: D (63%), M: D (85%), N: D (95%), P: D (66%), Q: D (95%), S: D (95%), T: D (95%), V: D (91%), W: D (95%), Y: D (95%),
Predicted by PROVEAN: A: N, C: D, D: N, E: N, F: N, G: N, H: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, S: N, T: N, V: N, W: N, Y: N,

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[hide] Chiang HS, Wu CC, Wu YN, Lu JF, Lin GH, Hwang JL
CFTR mutation analysis of a Caucasian father with congenital bilateral absence of vas deferens, a Taiwanese mother, and twins resulting from ICSI procedure.
J Formos Med Assoc. 2008 Sep;107(9):736-40., [PMID:18796364]

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