ABCMdb

ABCC7 p.Glu527Asn

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Publications

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
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
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