ABCMdb

ABCC7 p.Met82Val

None has been submitted yet.

Publications

PMID: 16126774 [PubMed] Morea A et al: "Gender-sensitive association of CFTR gene mutations and 5T allele emerging from a large survey on infertility."

No. Sentence Comment

76 This test involved nine subjects from the infertile group, revealing the occurrence of the following rare mutations: E217G, T1054A, W356X, D443Y and 3667insTC in males and L997F and R297Q in females and 29 subjects from the control, in which we found: A1009T, D110Y, E826K, G1069R, G1130A, G194V, I556V, L320F, M348K, M82V, P1290T, R117C, R352W, R74W, S42F, S660T, S911R, S912L, T1086A, T582S, V920L and Y89C. Login to comment

PMID: 19910674 [PubMed] Ramalho AS et al: "Deletion of CFTR translation start site reveals functional isoforms of the protein in CF patients."

No. Sentence Comment

126 jointly mutated into valines and the respective stable cells wereanalysedbyimmunoblotforCFTR.ResultsinFig.5A reveal the presence of two proteins (D and E) for single mutants of M82V, M150V, M152V and M156V (lanes 36, respectively) and also for the double mutants M150V/ M152, M150V/M156V and M152V/M156V (lanes 7-9). Login to comment
130 Individual and double mutations of M82V, M150V and M152V (lanes 5-8) did not cause loss of either protein species D or E, consistent with the corresponding constructs in the in vivo assay. Login to comment
131 The mutant M82V/M150V/M152V (lane 4) does not alter the production of proteins D and E either. Login to comment
133 Thus, this species likely corresponds to the CFTR variant resulting from usage of M150/M152 or M156 (and not of M82 because the M82V mutation alone did not abolish the appearance of this band). Login to comment
140 Lanes 3-10 correspond to the proteins produced by the methionines mutants all in the c.120del23-CFTR pNUT background: lane 3, M82V; lane 4, M150V; lane 5 M152V; lane 6, M156V; lane 7, M150V/M152V; lane 8, M150V/M156V; lane 9, M152V/M156V; lane 10, M150V/M152V/M156V. Login to comment
144 Lanes 2-8 all in pSP73: 2, CFTR exons 2-24; 3, M82V/ M150V/M152V/M156V; 4, M82V/M150V/M152V; 5, M82/M152V; 6, M82V/M150V;7, M150; 8, M82V. Login to comment

PMID: 22980976 [PubMed] Govindan R et al: "Genomic landscape of non-small cell lung cancer in smokers and never-smokers."

No. Sentence Comment

76 We identified five point mutations involving the CFTR gene in four samples; these included four missense (LUC18: M82V, LUC9: R170L, F354I, and A309S from panel screening) and one nonsense (LUC18: S478*) mutations. Login to comment
77 Two of the five point mutations involving CFTR (M82V and S478*) have been previously reported in patients with cystic fibrosis (Koukourakis et al., 2003). Login to comment