ABCC7 p.Arg1283Ser

ClinVar: c.3848G>A , p.Arg1283Lys ? , not provided
c.3848G>T , p.Arg1283Met D , Pathogenic
CF databases: c.3847A>G , p.Arg1283Gly (CFTR1) ? , The patient’s other mutation is F508del. Missense mutation Arginine to Glycine at codon 1283. Predicted by PolyPhen as Probably Damaging; Align GVGD classifies it as C65 (most likely to interfere with function); highly conserved nucleotide and amino acid.
c.3848G>A , p.Arg1283Lys (CFTR1) ? , This mutation in exon 20 of the CFTR gene was caused by a G to A substitution at nucleotide 3980. This change creates a MboII site giving a similar pattern (fragments of almost the same sixe) as G1244E and destroys the same MnII site as W1282X. It was found on a french CF chromosomes bearing haplotype C and appears to be rare: 1 out of 1200 CF chromosomes and was never found on 200 normal chromosomes studied. As the Arginine at this position is not always conserved and as tis change is not severe we are not sure that this substitution is a disease causing mutation.
c.3848G>T , p.Arg1283Met (CFTR1) ? , The mutation destroys the same Mnl I restriction site as W1282X and consequently some members of the consortium may have to recharacterize their W1282X mutants if they were originally identififed through this digest. R1283M creates a Fok I site and can also be detected using some ASo's . This mutation is present is present in 3 unrelated patients in our population and thus accounts for 0.8% of our chromosomes. Two of the patients are of Welsh descent and the third is of either English or Welsh descent. All three of the individuals have moderate to severe phenotypes. Since this mutation is not present on 51 normal chromosomes nor on 85 [delta]F508 chromosomes, and since it would cause a non-conservative amino acid substituion, we believe that it is a disease causing mutation.
Predicted by SNAP2: A: D (95%), C: D (95%), D: D (95%), E: D (95%), F: D (95%), G: D (95%), H: D (95%), I: D (95%), K: D (95%), L: D (95%), M: D (66%), N: D (95%), P: D (95%), Q: D (95%), S: D (95%), T: D (95%), V: D (95%), W: D (95%), Y: D (95%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, S: D, T: D, V: D, W: D, Y: D,

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[hide] Feuillet-Fieux MN, Ferrec M, Gigarel N, Thuillier L, Sermet I, Steffann J, Lenoir G, Bonnefont JP
Novel CFTR mutations in black cystic fibrosis patients.
Clin Genet. 2004 Apr;65(4):284-7., [PMID:15025720]

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