ABCC7 p.Ser686Tyr
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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/).
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ABCC7 p.Ser686Tyr 12783301:83:0
status: NEW109 The remaining three PSC patients had potentially disease-causing mutations (S686Y, I1366F, R75Q), which may contribute to CF-like phenotypes.
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ABCC7 p.Ser686Tyr 12783301:109:76
status: NEW115 For example, S686Y, which results in a change of serine to tyrosine, is a potentially disease-causing mutation because it would abolish the consensus phosphorylation site for both PKA and PKC protein kinases.
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ABCC7 p.Ser686Tyr 12783301:115:13
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.
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ABCC7 p.Ser686Tyr 15784035:104:57
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.
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ABCC7 p.Ser686Tyr 15784035:106:304
status: NEW
PMID: 23503723
[PubMed]
Zhou L et al: "Symmetric snapback primers for scanning and genotyping of the cystic fibrosis transmembrane conductance regulator gene."
No.
Sentence
Comment
126
d One sample had 2 rare variants (R668C and S686Y) that required sequencing but were in the same amplicon.
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ABCC7 p.Ser686Tyr 23503723:126:44
status: NEW174 Such was the case in the current study with p.S686Y in exon 14, which is 4 bases away from the ACMG CFTR mutation c.2052delA.
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ABCC7 p.Ser686Tyr 23503723:174:46
status: NEW