ABCC7 p.Arg248Glu

ClinVar: c.743G>C , p.Arg248Thr ? , not provided
CF databases: c.743G>C , p.Arg248Thr (CFTR1) ? , The mutation was detected by DGGE and identified by direct sequencing of a CBAVD patient with [delta]F508 on the other chromosome. The mutation was not observed in 100 other CFTR alleles from 50 unrelated individuals without CF history. The mutation may affect mRNA splicing.
Predicted by SNAP2: A: D (80%), C: D (80%), D: D (91%), E: D (91%), F: D (85%), G: D (91%), H: D (85%), I: D (85%), K: D (66%), L: D (85%), M: D (85%), N: D (75%), P: D (91%), Q: D (80%), S: D (71%), T: D (80%), V: D (85%), W: D (80%), Y: D (85%),
Predicted by PROVEAN: A: D, C: D, D: D, E: N, F: D, G: D, H: N, I: D, K: N, L: D, M: N, N: N, P: D, Q: N, S: N, T: D, V: D, W: D, Y: D,

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[hide] Chen M, Zhang JT
Topogenesis of cystic fibrosis transmembrane conductance regulator (CFTR): regulation by the amino terminal transmembrane sequences.
Biochemistry. 1999 Apr 27;38(17):5471-7., 1999-04-27 [PMID:10220334] [PubMed]

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