ABCC7 p.Val392Ala
| ClinVar: |
c.1175T>C
,
p.Val392Ala
?
, not provided
c.1175T>G , p.Val392Gly ? , not provided |
| CF databases: |
c.1175T>G
,
p.Val392Gly
(CFTR1)
D
, This mutation was detected by heteroduplex analysis in one chromosome of 21 year-old East Indian CF patient, whose other CF mutation was unknown. The patient was presented with high sweat chloride (125), pancreatic sufficiency and moderate lung disease (27 July 1997). This mutation was also reported by Larder et al (5 August 1997) who found the mutation by DGGE analysis and identified by direct DNA sequencing. The mutation was seen in homozygous form in a Pakistani CF patient on one occasion, in over 200 non-[delta]F508 chromosome screened. The patient was referred by the Yorkshire Regional DNA Laboratory at Leeds (UK). The DGGE primers were supplied by Pr. Michel Goossens on behalf of the European Community Concerted Action for the Co-ordination of Cystic Fibrosis Research and Therapy.
c.1175T>C , p.Val392Ala (CFTR1) D , The above sequence alteration was detected by DGGE using chemical clamps and identified by direct sequencing. V392A was found in a patient presented with congenital absence of vas deferens and [delta]F508 on his other chromosome; it was not found in 100 other non-[delta]F508 CF chromosomes and 100 non-CF chromosomes tested. |
| Predicted by SNAP2: | A: N (82%), C: N (66%), D: D (66%), E: N (61%), F: N (57%), G: D (59%), H: D (53%), I: N (93%), K: N (66%), L: N (93%), M: N (93%), N: D (53%), P: D (59%), Q: N (53%), R: D (59%), S: N (53%), T: N (82%), W: D (59%), Y: N (53%), |
| Predicted by PROVEAN: | A: N, C: N, D: N, E: N, F: N, G: D, H: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, W: D, Y: N, |
[switch to compact view]
Comments [show]
None has been submitted yet.
[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.
Comments [show]
None has been submitted yet.
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).
X
ABCC7 p.Val392Ala 20059485:64:738
status: NEW