ABCC7 p.Tyr109*
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PMID: 15025720
[PubMed]
Feuillet-Fieux MN et al: "Novel CFTR mutations in black cystic fibrosis patients."
No.
Sentence
Comment
42
This mutation predicts the substitution of a stop codon for a tyrosine (Y109X), resulting in truncation of the CFTR protein by 1370 amino acids from the first transmembrane domain.
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ABCC7 p.Tyr109* 15025720:42:72
status: NEW64 We report herein four novel mutations in three Central African patients native of Cameroon [Y109X (exon 4)] and Senegal [IVS2 þ 28A > G (intron 2), EX17a-EX18del], and in one Guianese patient [IVS22 þ 1G > A (intron 22)].
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ABCC7 p.Tyr109* 15025720:64:92
status: NEW65 While the parents of case 1 claimed they were unrelated, finding of an identical rare mutation (Y109X) in each of them indeed argues for some degree of consanguinity hitherto unknown.
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ABCC7 p.Tyr109* 15025720:65:96
status: NEW