ABCC7 p.Ser50Tyr
| ClinVar: |
c.148T>C
,
p.Ser50Pro
?
, not provided
c.149C>A , p.Ser50Tyr ? , not provided |
| CF databases: |
c.148T>C
,
p.Ser50Pro
(CFTR1)
D
, Abnormal pattern in SSCA exon 2 was observed for I50T. Direct sequence of the sample allowed us to detect this new mutation. This mutation was observed in a Spanish man with CBAVD, carrying DE115 in the other chromosome.
c.149C>A , p.Ser50Tyr (CFTR1) D , New missense mutation detected in exon 2 of the CFTR gene. Transversion C to A at position 281 of the CFTR gene was detected in a CBAVD patient by heteroduplex-MDE analysis using the following exon 2 specific primers: 21-5, 5'-CCAAATCTGTATGGAGACCA-3' and 2i-3s, 5'-AGCCACCATACTTGGCTCCT-3'. The change leads to a substitution of tyrosine for serine at position 50 of the polypeptide (S50Y). Except the [delta]F508 mutation and two variants (1898+152A and 1001+11T) no other change was detected by heteroduplex analysis of all CFTR exons in this patient. The S50Y allele was found once among 126 chromosomes from CBAVD patients. |
| Predicted by SNAP2: | A: N (57%), C: D (63%), D: D (85%), E: D (80%), F: D (85%), G: N (57%), H: D (85%), I: D (85%), K: D (80%), L: D (80%), M: D (85%), N: D (71%), P: D (80%), Q: D (71%), R: D (80%), T: D (63%), V: D (71%), W: D (91%), Y: N (61%), |
| Predicted by PROVEAN: | A: N, C: N, D: N, E: N, F: N, G: N, H: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, T: N, V: N, W: D, Y: N, |
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[hide] Do common in silico tools predict the clinical con... Clin Genet. 2010 May;77(5):464-73. Epub 2009 Jan 6. Dorfman R, Nalpathamkalam T, Taylor C, Gonska T, Keenan K, Yuan XW, Corey M, Tsui LC, Zielenski J, Durie P
Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
Clin Genet. 2010 May;77(5):464-73. Epub 2009 Jan 6., [PMID:20059485]
Abstract [show]
Computational methods are used to predict the molecular consequences of amino-acid substitutions on the basis of evolutionary conservation or protein structure, but their utility in clinical diagnosis or prediction of disease outcome has not been well validated. We evaluated three popular computer programs, namely, PANTHER, SIFT and PolyPhen, by comparing the predicted clinical outcomes for a group of known CFTR missense mutations against the diagnosis of cystic fibrosis (CF) and clinical manifestations in cohorts of subjects with CF-disease and CFTR-related disorders carrying these mutations. Owing to poor specificity, none of tools reliably distinguished between individual mutations that confer CF disease from mutations found in subjects with a CFTR-related disorder or no disease. Prediction scores for CFTR mutations derived from PANTHER showed a significant overall statistical correlation with the spectrum of disease severity associated with mutations in the CFTR gene. In contrast, PolyPhen- and SIFT-derived scores only showed significant differences between CF-causing and non-CF variants. Current computational methods are not recommended for establishing or excluding a CF diagnosis, notably as a newborn screening strategy or in patients with equivocal test results.
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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).
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ABCC7 p.Ser50Tyr 20059485:64:367
status: NEW[hide] Identification of two mutations (S50Y and 4173delC... Hum Mutat. 1997;9(2):183-4. Zielenski J, Patrizio P, Markiewicz D, Asch RH, Tsui LC
Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD).
Hum Mutat. 1997;9(2):183-4., [PMID:9067761]
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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.
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ABCC7 p.Ser50Tyr 9067761:1:51
status: NEW2 During a systematic screening of 70 CBAVD patients for mutations in the CFTR gene, we found two novel mutations (S50Y and 4173delC).
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ABCC7 p.Ser50Tyr 9067761:2:113
status: NEW4 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).
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ABCC7 p.Ser50Tyr 9067761:4:0
status: NEWX
ABCC7 p.Ser50Tyr 9067761:4:5
status: NEW7 This nucleotide change leads to substitution of serine for tyrosine at position 50 of theCFTR polypeptide.
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ABCC7 p.Ser50Tyr 9067761:7:48
status: NEW10 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.
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ABCC7 p.Ser50Tyr 9067761:10:82
status: NEW[hide] CFTR gene variant for patients with congenital abs... Am J Hum Genet. 1995 Oct;57(4):958-60. Zielenski J, Patrizio P, Corey M, Handelin B, Markiewicz D, Asch R, Tsui LC
CFTR gene variant for patients with congenital absence of vas deferens.
Am J Hum Genet. 1995 Oct;57(4):958-60., [PMID:7573058]
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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.
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ABCC7 p.Ser50Tyr 7573058:21:294
status: NEW64 Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with the congenital bilateral absence of vas deferens (CBAVD).
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ABCC7 p.Ser50Tyr 7573058:64:33
status: NEW