ABCC7 p.Val317Ala
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PMID: 11168024
[PubMed]
Scotet V et al: "Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis."
No.
Sentence
Comment
11
Variability of mutations detected in carriers was greater than in CF children (21 mutations versus 10) and a high proportion of mild mutations or variants (A349V, R297Q, R347H, V317A, G544S, R553G, etc) was observed in carriers.
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ABCC7 p.Val317Ala 11168024:11:177
status: NEW74 We noted, among heterozygous children, a high proportion of mild mutations (R297Q, R347H, M348K, A349V, G544S) or for which the pathogenicity is yet impossible to determine (V317A, V322A, R553G).
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ABCC7 p.Val317Ala 11168024:74:174
status: NEW
PMID: 8530001
[PubMed]
Ferec C et al: "Neonatal screening for cystic fibrosis: result of a pilot study using both immunoreactive trypsinogen and cystic fibrosis gene mutation analyses."
No.
Sentence
Comment
5
This strategy has allowed the identification of five novel alleles (V322A, V317A, 1806 del A, R553G, G544S).
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ABCC7 p.Val317Ala 8530001:5:75
status: NEW82 {17bi DI507 [ Y569X W846X 2789+5G->A ,' $492F i ] i I G551D 2622+1 G->A Y1092X 1717-1 G->A E827X A1067T G542X 2183 AA->G R1066H R560K 2184 ins A 3320,ins 5 R553G R1070W 1806 del A & 4005+1G->A W1282X ] i "- Exons Fig.2 Distribution of the different mutations (except AF508) of the CFTR gene in Brittany Table 1 Mutations and genotypes in newborns Genotypes of newborns Number Sweat test AF508/AF508 7 + > 90 AF508/1806 del A 1 + > 90 R553G/G551D 1 Borderline (60) AF508/G551D 1 + > 90 AF508/R1070W 1 40 AF508/G542X 1 + > 90 AF508/G149R 1 45 Total 13 Mutations found in heterozygote newborns AF508 31 R560K 1 1078 del T 1 G544S l G542X 1 V317A 1 R347H 1 V322A 1 Total 38 gene.
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ABCC7 p.Val317Ala 8530001:82:637
status: NEW83 The first, a T---~C mutation at position 1082 in exon 7, results in the substitution of alanine for valine (V317A; Fig. 3).
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ABCC7 p.Val317Ala 8530001:83:108
status: NEW100 It has been Fig.3 Autoradiographs showing the nucleotide sequence of portions of exons 11 and 7 of CFTR and demonstrate the mutations G544S, R553G + G551D, and V317A.
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ABCC7 p.Val317Ala 8530001:100:162
status: NEW128 The other mutations whose pathogenicity is, as yet, impossible to determine are V322A, V317A, and G544S.
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ABCC7 p.Val317Ala 8530001:128:89
status: NEW