ABCMdb

PMID: 7519167

Grade K, Grunewald I, Graupner I, Behrens F, Coutelle C
Identification of three novel mutations in the CFTR gene using temperature-optimized non-radioactive conditions for SSCP analysis.
Hum Genet. 1994 Aug;94(2):154-8., [PubMed]

Sentences

No. Mutations Sentence Comment

7 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Arg347Pro ABCC7 p.Gly542* A further 10% (approximately) are attributable to the presence of the mutations R347P, G542X, G551D and R553X (Coutelle et al. 1992). Login to comment 18 ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Ser1255Pro PCR-amplified DNA containing mutations R117H, S1255P, W1282X, and 3905insT was kindly supplied by the European Concerted Action on Cystic Fibrosis. Login to comment 22 ABCC7 p.Arg75Gln bands (bp) zygous 11 492 20 11 20 9 309 9 15 438 15 155 Hetero- Homo- zygous 3 3 I (+ smear) 3 6 4 3 R75Q Rll7H Polym. Login to comment 23 ABCC7 p.Arg347Pro Frameshi~ R347P DF508 9 417 15 227 9 and 20 98 No banding 9 and 20 20 No banding 491 2 4 20 3 2~ 498 3 5 4 4 b 3 5 426 3 5 426 1 2 511 2 2b 3 400 3 8 5 390 2 4 399 3 4-5 240 3 4 4 4 477 3 30 3 4 2 3b 569 2-3 2 delTCT1652-1654 A 1540G Wild type 1717-1G-~A G1756T GI784A C1789T Wild type G1859C Wild type 1898+lG--~A Wild type T2694G Wild type 2991de132 G3030A Wild type 3171insC Wild type C3408A Wild type T3895C G3978A 3905insT Wild type C4041G Wild type 4006-200G--~A C4041G Wild type 4521G/A 4700T8/9 DF508 M470V Splice rout. Login to comment 24 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Gly542* ABCC7 p.Gly576Ala G542X G551D R553X G576A Splice rout. Login to comment 25 ABCC7 p.Trp1282* ABCC7 p.Ser1255Pro ABCC7 p.Asn1303Lys ABCC7 p.Tyr1092* Polym. Frameshift Polym. Frameshift Y1092X S1255P W1282X Frameshift N1303K Polym. Login to comment 26 ABCC7 p.Asn1303Lys N1303K Polym. Login to comment 36 ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Gly542* Lanes 1, 7, wild type; lane 2, G542X/normal; lane 3, G551D/normal; lane 4, G551D/ G551D; lane 5, R553X/normal; lane 6, 1717G--+A/normal Case history of the patient with the 317 linsC mutation Among the patients carrying one non-deltaFs0~mutation, we found one girl with the genotype 3171insC/deltaFs0s. Login to comment