ABCC7 p.Ile1203Val
| ClinVar: |
c.3607A>G
,
p.Ile1203Val
?
, Uncertain significance
|
| CF databases: |
c.3607A>G
,
p.Ile1203Val
(CFTR1)
D
, This mutation was identified by DHPLC and confirmed by sequencing reaction
|
| Predicted by SNAP2: | A: N (93%), C: N (97%), D: N (87%), E: N (93%), F: N (97%), G: N (93%), H: N (97%), K: N (93%), L: N (97%), M: N (97%), N: N (97%), P: N (93%), Q: N (97%), R: N (93%), S: N (97%), T: N (97%), V: N (97%), W: N (93%), Y: N (97%), |
| Predicted by PROVEAN: | A: N, C: N, D: N, E: N, F: N, G: N, H: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: N, Y: N, |
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[hide] Analysis of four diverse population groups indicat... Am J Hum Genet. 1992 Jun;50(6):1185-94. Cutting GR, Curristin SM, Nash E, Rosenstein BJ, Lerer I, Abeliovich D, Hill A, Graham C
Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians.
Am J Hum Genet. 1992 Jun;50(6):1185-94., [PMID:1376017]
Abstract [show]
To determine the nature and frequency of non-delta F508 cystic fibrosis (CF) mutations among diverse populations, we have sequenced exons 9-12 and 19-23 of the CF transmembrane conductance regulator (CFTR) gene from 128 CF chromosomes (39 U.S. Caucasian, 27 African-American, 42 Northern Irish, and 20 Israeli chromosomes). These regions were chosen because they encode the two putative ATP-binding folds of CFTR, domains which appear to have functional significance. In addition, CFTR exons 1 and 2 were analyzed in the American patients. Mutations were found on 49 of the 128 CF chromosomes. Nineteen different mutations were observed; six were novel, while the remaining 13 had been reported previously by our group or by other investigators. Six of nine different mutations found in African-American patients were unique to that population. However, the vast majority of the mutations found in U.S. Caucasians (eight of nine), Northern Irish (four of five), and Israelis (three of three) also occurred in other Caucasian groups. The preponderance of previously reported mutations in these three groups suggested that a subset of the non-delta F508 mutations occur in common among Caucasians. A survey of mutation frequencies in other Caucasian groups confirmed this observation. Unfortunately, this subset accounts for less than half of non-delta F508 CF mutations in most groups. These data suggest that screening for delta F508 and this select group of mutations will efficiently and economically maximize the number of CF mutations identified in Caucasian groups. However, it will be difficult to detect more than 90% of mutant CFTR alleles except in ethnically and geographically discrete populations where CF is the result of founder effect.
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No. Sentence Comment
88 A nucleotide substitution of A for G at position 3739 in exon 19, causing the amino acid substitution of isoleucine for valine at codon 1203 (I1203V), was found in one African-American patient.
X
ABCC7 p.Ile1203Val 1376017:88:105
status: NEWX
ABCC7 p.Ile1203Val 1376017:88:142
status: NEW92 Therefore, it is unclear whether I1203V is associated with disease or is merely an accumulated mutation in a nonfunctioning gene.
X
ABCC7 p.Ile1203Val 1376017:92:33
status: NEW126 The discovery ofa rare missense mutation (I1203V) on a CF chromosome bearing a nonsense mutation reveals a further complication of mutation analysis.
X
ABCC7 p.Ile1203Val 1376017:126:42
status: NEW