ABCMdb

ABCC7 p.Met469Val

None has been submitted yet.

Publications

PMID: 15905293 [PubMed] Wu CC et al: "Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens."

No. Sentence Comment

115 Although the p.M469I mutation has never been reported, mutation at the same amino acid, p.M469V, has been found in CBAVD patients (http://genet.sickkids.on.ca). 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: 23953609 [PubMed] Lu S et al: "Different cystic fibrosis transmembrane conductance regulator mutations in Chinese men with congenital bilateral absence of vas deferens and other acquired obstructive azoospermia."

No. Sentence Comment

7 RESULTS Six heterozygous mutations (&#fe;/), I556V, M469V, E527N, F508del, S485C, and I558S, were found in 30 patients, and 1 homozygous mutation (&#fe;/&#fe;), I556V, was found in 1 patient. Login to comment
10 In CBAVD group, 20 of 158 patients were identified with 6 different heterozygous mutations (I556V, M469V, E527N, F508del, S485C, and I558S) and 1 homozygous mutation (I556V). Login to comment
12 In acquired obstructive group, 11 of 243 patients were identified with 2 different heterozygous mutations, I556V and M469V; the rate of mutations was 4.5%. Login to comment
51 (C) M469V mutation is indicated by arrow. Login to comment
53 detected in 31 patients, including 30 cases of 6 different heterozygous mutations (I556V, M469V, E527N, F508del, S485C, and I558S) as positive for only 1 mutation (&#fe;/), and 1 case of homozygous mutations (I556V); the rate of CFTR mutations was 7.7%. Login to comment
55 In CBAVD patients, 20 of 158 patients were identified with 6 different CFTR mutations, including 19 cases of 6 different heterozygous mutations (I556V, M469V, E527N, F508del, S485C, and I558S), 1 case of homozygous mutations (I556V); the rate of CFTR mutations was 12.7%. Login to comment
56 In other obstructive azoospermia group, 2 different heterozygous CFTR mutations were identified in 11 of 243 patients, including 10 patients of I556V mutations and 1 of M469V mutations. Login to comment
66 Frequency of different mutations types in 31 male patients Mutations Type Frequency I556V 24/31 (77.4%) M469V 3/31 (9.7%) E527N 1/31 (3.2%) F508del 1/31 (3.2%) L558S 1/31 (3.2%) S485C 1/31 (3.2%) Table 1. Login to comment
67 Cystic fibrosis transmembrane conductance regulator gene mutations in 31 male patients Patient Number Age (y) Diagnosis Mutation Locus Mutation Alleles Change of Nucleotide Change of Amino Acid Chromosome 1 27 CBAVD I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 2 30 CBAVD I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 3 25 CBAVD I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 4 25 CBAVD I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 5 28 CBAVD I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 6 28 CBAVD I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 7 25 CBAVD I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 8 30 CBAVD I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 9 26 CBAVD I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 10 28 CBAVD I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 11 29 CBAVD I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 12 30 CBAVD I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 13 23 CBAVD I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 14 31 CBAVD I556V Homo (&#fe;/&#fe;) AA/AG Ile (ATT) to Val (GTT) 46XY 15 27 CBAVD M469V Hetero (&#fe;/) AA/AG Met (ATG) to Val (GTG) 46XY 16 27 CBAVD M469V Hetero (&#fe;/) AA/AG Met (ATG) to Val (GTG) 46XY 17 29 CBAVD E527N Hetero (&#fe;/) GG/AG Glu (GAA) to Lys (AAA) 46XY 18 33 CBAVD F508del Hetero (&#fe;/) Del TCT Deletion of Phe at 508 46XY 19 26 CBAVD L558S Hetero (&#fe;/) TT/TC Leu (TTA) to Ser (TCA) 46XY 20 35 CBAVD S485C Hetero (&#fe;/) AA/AT Ser (AGT) to Cys (TGT) 46XY 21 25 ObsA I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 22 32 ObsA I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 23 29 ObsA I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 24 25 ObsA I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 25 30 ObsA I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 26 25 ObsA I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 27 37 ObsA I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 28 29 ObsA I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 29 23 ObsA I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 30 27 ObsA I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 31 27 ObsA M469V Hetero (&#fe;/) AA/AG Met (ATG) to Val (GTG) 46XY CBAVD, congenital bilateral absence of vas deferens; hetero, heterozygous; homo, homozygous; ObsA, obstructive azoospermia. Login to comment
79 Such mutations would produce abnormally low levels of CFTR protein, which may cause obstruction of the vas deferens, but there may be sufficient protein to prevent from disease in other organs normally affected by CF.18 I556V found in the present cases is a mutation initially reported in a French man who had asthma-like bronchopathy and chronic diarrhea, which was recently identified in 10%-15% of Asians irrespective of chronic respiratory diseases.19 Because the I556V and M469V heterozygous mutations were all founded in CBAVD and obstructive azoospermia groups, they might not be special mutations for CBAVD. Login to comment