ABCMdb

ABCC7 p.Pro499Ala

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Publications

PMID: 15297887 [PubMed] Jarzabek K et al: "Cystic fibrosis as a cause of infertility."

No. Sentence Comment

62 The 5T variant produces a lower level of normal CFTR mRNA transcripts than the 7T and 9T alleles and is associated with disseminated bronchiectasis, CBAVD and epididymal obstruction [5].Arduino et al. have described a CBAVD patient with a compound heterozygosity in the CFTR gene for a stop mutation W1282X and a new missense mutation P499A. Login to comment
63 The P499A was found as a mild mutation, limited to the development of Wolffian duct derivatives and was revealed only in combination with a severe CFTR mutation [1]. Login to comment

PMID: 20059485 [PubMed] Dorfman R et al: "Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?"

No. Sentence Comment

64 Mutations in the CFTR gene grouped by clinical category Cystic fibrosis CFTR-related disease No disease T338I D614G L320V V920L L90S M470V H199R S1251N I203M G550R P111A I148T Q1291H R560K L1388Q L183I R170H I1027T S549R D443Y P499A L1414S T908N R668C S549N A455E E1401K Q151K G27E I1234L Y563N R347P C866R S1118C P1290S R75Q A559T V520F P841R M469V E1401G P67L G85E S50Y E1409K R933G G458V G178R Y1032C R248T I980K G85V V392G L973P L137H T351S R334W I444S V938G R792G R560T R555G L1339F D1305E P574H V1240G T1053I D58G G551D L1335P I918M F994C S945L L558S F1337V R810G D1152H G1247R P574S R766M D579G W1098R H949R F200I R352Q L1077P K1351E M244K L206W M1101K D1154G L375F N1303K R1066C E528D D110Y R347H R1070Q A800G P1021S S549K A1364V V392A damaging` (is supposed to affect protein function or structure) and 'probably damaging` (high confidence of affecting protein function or structure). Login to comment

PMID: 9630075 [PubMed] Arduino C et al: "Congenital bilateral absence of vas deferens with a new missense mutation (P499A) in the CFTR gene."

No. Sentence Comment

2 missense the CFTR gene mutation Arduino C, Ferrone M, Brusco A, Garnerone S, Fontana D, Rolle L, Carbonara AO.Congenital bilateral absence of vas deferens with a new missense mutation (P499A)in the CFTR gene. Login to comment
4 0 Munksgaard, 1998 We describe a congenital bilateral absence of the vas deferens (CBAVD) patient with a compound heterozygosity in the cystic fibrosis transmembrane regulator ( C n R ) gene for a stop mutation W1282X and a new missense mutation P499A.The P499A is interpreted as a mild mutation whose phenotypic effects, in this case limited to the development of wolffian duct derivatives,are revealed only in combination with a severe CFTR mutation. Login to comment
11 The present study reports a CBAVD patient with a compound heterozygosity in the CFTR gene for a stop mutation (W1282X) and a new missense mutation (P499A). Login to comment
12 The effects of this genotype are 202 (P499A) in C Arduino., M Ferroneb, A Bruscob,S Gameroneb, D Fontaria', L Rolledand A 0 Carbonarab a servizioUniversitario Convenzionato di Genetica Medica. Login to comment
31 P499A and W1289X mutations are also included. Login to comment
34 The wild type allele produced three fragments of 257, 223 and 11 bp; the P499A mutations yielded two fragments of 257 and 234 bp. Login to comment
39 Results Patient SA analysed for the 12 CF mutations proved positive for W128X, which was inherited from the mother (1-2), Direct sequencing of exon 10, which displayed a band shift, showed C-.G transversion at position 1627 that changed residue 499 from Pro to Ala (P499A). Login to comment
41 The P499A was inherited from the father (1-1) and it is also present in the sister (11-3). Login to comment
42 The P499A behaves as allelic to W1282X. Login to comment
44 Fig. la displays the haplotypes deduced from the segregation of six CFTR-linked Arduino et al. polymorphic sites; note that the 5T variant and P499A are in trans in 1-1. Login to comment
45 Screening of 200 normal chromosomes from healthy individuals detected the new P499A mutation in two subjects YO). Login to comment
46 None of the 105 CF uncharacterised chromosomes carried the P499A. Login to comment
49 The CFTR genotype of our patient is represented by a severe mutation (W1282X) and by a new missense substitution P499A. Login to comment
50 Several considerations suggest that P499A is not a neutral polymorphic variant but a mild mutation that in the context of a peculiar CFTR genotype can be associated with CBAVD. Login to comment
53 In comparison with these mutants, P499A appears even milder; indeed the patient`s healthy father carries P499A in one chromosome and the 5T allele in the other without showing any sign of CFTR dysfunction. Login to comment
54 This interpretation is also substantiated by the absence of P499A on 306 CF chromosomes. Login to comment
55 In conclusion, P499A appears to belong to the category of substitutions that slightly affect the CFTR function and can therefore give rise to a mild phenotype such as CBAVD only in combination with a severe mutation. Login to comment