ABCC7 p.Gly1237Ser
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PMID: 15151509
[PubMed]
Casals T et al: "Bronchiectasis in adult patients: an expression of heterozygosity for CFTR gene mutations?"
No.
Sentence
Comment
61
Among the 11 missense mutations, the (G1237S) a G > A substitution at nucleotide 3841 is reported for the first time and was detected in two sibs, the brother presenting with oligozoospermia.
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ABCC7 p.Gly1237Ser 15151509:61:38
status: NEW
PMID: 24556927
[PubMed]
Molinski SV et al: "Genetic, cell biological, and clinical interrogation of the CFTR mutation c.3700 A>G (p.Ile1234Val) informs strategies for future medical intervention."
No.
Sentence
Comment
131
Interestingly, the CF Mutation Database5 contains several disease-associated mutations within the p.Ile1234_Arg1239 sequence and includes c.3705T>G (p.Ser1235Arg), c.3709G>A (p.Gly1237Ser), c.3713A>G (p.Gln1238Arg), c.3712C>T (p.Gln1238X), and c.3717G>C (p.Arg1239Ser).
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ABCC7 p.Gly1237Ser 24556927:131:177
status: NEW132 These mutations were each found in one or two individuals of European descent (i.e., Belgian, Spanish, French, and English), and the clinical presentation varied from a mild phenotype, in which the mutation was detected at 40 years of age (p.Gly1237Ser), with pancreatic sufficiency and forced expiratory volume in 1 s >70%, to a more severe CF phenotype (p.Gln1238X, in trans with p.Phe508del) that was diagnosed at birth and manifested with pancreatic insufficiency.
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ABCC7 p.Gly1237Ser 24556927:132:242
status: NEW