ABCC7 p.Ile1366Phe
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 12783301
[PubMed]
Sheth S et al: "Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis."
No.
Sentence
Comment
83
S686Y and I1366F are novel potentially disease-causing variants that have not been reported from screening thousands of CF and healthy patients (http://www.genet.sickkids.on.ca/cftr/).
X
ABCC7 p.Ile1366Phe 12783301:83:10
status: NEW109 The remaining three PSC patients had potentially disease-causing mutations (S686Y, I1366F, R75Q), which may contribute to CF-like phenotypes.
X
ABCC7 p.Ile1366Phe 12783301:109:83
status: NEW
PMID: 15784035
[PubMed]
Gallegos-Orozco JF et al: "Lack of association of common cystic fibrosis transmembrane conductance regulator gene mutations with primary sclerosing cholangitis."
No.
Sentence
Comment
104
The remaining four mutations included two novel variants S686Y and I1366F of unknown functional and phenotypic effect, a Table 4.
X
ABCC7 p.Ile1366Phe 15784035:104:67
status: NEW106 of Classic CF Nonclassic CFTR Mutations Reference PSC Patients Mutations CF Mutations IVS8-5T of Unknown Effect McGill (1996) (21) 19 1 (G551D) 1 (R117H) NA NA Girodon (2002)(19) 29 0 3 (L997F, S1235R, D1270N) 2 1 (N782K) Sheth (2003)* (18) 19 0 3 (2752-26A→G, 3849 + 10kbC→T, I1139V) 1 3 (S686Y, I1366F, R75Q) Gallegos-Orozco (2004) 59 1 ( F508) 0 2 NA Total, no.
X
ABCC7 p.Ile1366Phe 15784035:106:311
status: NEW