ABCC7 p.Ala309Gly

ClinVar: c.926C>G , p.Ala309Gly ? , not provided
CF databases: c.925G>A , p.Ala309Thr (CFTR1) ? ,
c.926C>A , p.Ala309Asp (CFTR1) ? , The mutation is the C1058A substitution in exon 7, changing alanine 309 to aspartic acid. This mutation has been detected in the maternal CF chromosome of a PS patient originating from Southern Italy (Sicily) and carrying the [delta]F508 mutation on the other chromosome.
c.926C>G , p.Ala309Gly (CFTR1) ? , The above mutation was detected by DGGE using chemical clamps and identified by direct sequencing. It is not found in 100 other non-[delta]F508 CF chromosomes and 100 non-CF chromosomes tested. The patient is from Reunion Island.
c.926C>T , p.Ala309Val (CFTR1) ? ,
Predicted by SNAP2: C: D (59%), D: D (75%), E: D (75%), F: D (75%), G: D (53%), H: D (85%), I: D (80%), K: D (80%), L: D (71%), M: D (80%), N: D (63%), P: D (75%), Q: D (66%), R: D (75%), S: N (82%), T: N (66%), V: D (63%), W: D (91%), Y: D (91%),
Predicted by PROVEAN: C: N, D: N, E: N, F: N, G: N, H: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: N, Y: N,

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[hide] Bobadilla JL, Macek M Jr, Fine JP, Farrell PM
Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.
Hum Mutat. 2002 Jun;19(6):575-606., [PMID:12007216]

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[hide] Cartault F, Steffann J, Vidaud D, Bousquet S, Lesure F, Renouil M, McDonell N, Feingold J, Beldjord C, Bienvenu T
Detection of more than 91% cystic fibrosis mutations in a sample of the population from Reunion Island and identification of two novel mutations (A309G, S1255L) and one novel polymorphism (L49L)
Clin Genet. 1998 Nov;54(5):437-9., [PMID:9842999]

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[hide] Nectoux J, Audrezet MP, Viel M, Leroy C, Raguenes O, Ferec C, Lesure JF, Davy N, Renouil M, Cartault F, Bienvenu T
A frequent large rearrangement in the CFTR gene in cystic fibrosis patients from Reunion Island.
Genet Test. 2006 Fall;10(3):208-14., [PMID:17020473]

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