ABCMdb

ABCC7 p.Ser50Tyr

None has been submitted yet.

Publications

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: 9067761 [PubMed] Zielenski J et al: "Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD)."

No. Sentence Comment

1 MUTATION IN BRIEF Identification of Two Mutations (S50Y and 4173delC) in the CFTR Gene From Patients With Congenital Bilateral Absence of Vas Deferens (CBAVD) J. Zielenski1 , P. Patrizio2 , D. Markiewicz, R.H. Asch2 , and L.-C. Tsui1,3* 1 Department of Genetics, Hospital for Sick Children, Toronto, Canada 2 Department of Obstetrics and Gynecology, University of California at Irvine, Orange, California 3 Departments of Molecular and Medical Genetics, University of Toronto, Toronto, Canada M5G IX8; Fax: 416-813-4931 Communicated by Garry R. Cutting INTRODUCTION The frequent detection of mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene among congenital bilateral absence of vas deferens (CBAVD) patients implicates that this disease is a CF-associated abnormality. Login to comment
2 During a systematic screening of 70 CBAVD patients for mutations in the CFTR gene, we found two novel mutations (S50Y and 4173delC). Login to comment
4 S50Y S50Y is a missense mutation that was detected in exon 2 of the CFTR gene after amplification with primers: 2i-5 and 2i-3 (Zielenski et al., 1991b). Login to comment
7 This nucleotide change leads to substitution of serine for tyrosine at position 50 of theCFTR polypeptide. Login to comment
10 Since the other chromosome of this patient carries a severe mutation (aF508), the S50Y may be considered as a very mild allele contributing to development of the CBAVD condition. Login to comment

PMID: 7573058 [PubMed] Zielenski J et al: "CFTR gene variant for patients with congenital absence of vas deferens."

No. Sentence Comment

21 More recently, CFTR alleles Letters to the Editor Table I CFTR Mutations Detected in the CBAVD Patients Number of Percentage Genotype Patients of Total AF508 IVS8/ST 16 W1282X IVS8/5T 9 AF508 R117H(7T) 4 N1303K IVS8/5T 2 IVS8/ST IVS8/5T 2 AF508 R117C 1 AF508 D1152H 1............ 1 58.6 AF508 S50Y 1 R553X R117H(7T) 1 R117H(7T) R117H(7T) 1 G542X IVS8/5T 1 1717-1G-+A IVS8/ST 1 1525-1G-A IVS8/5T 1 IVS8/5T Unknown 4 AF508 Unknown 4. Login to comment
64 Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with the congenital bilateral absence of vas deferens (CBAVD). Login to comment