ABCMdb

ABCC7 p.Trp79Arg

ClinVar:	c.236G>A , p.Trp79* ? , not provided c.235T>C , p.Trp79Arg ? , not provided
CF databases:	c.235T>C , p.Trp79Arg (CFTR1) D , The W79R mutation was detected on 1 chromosome in a CF patient of Swedish origin who carries a [delta]F508 mutation on the other allele. This alteration has not been observed on 179 US-Caucasian non-CF chromosomes by ASO analysis. The patient is a 12 year old male who was diagnosed at the age of one year old with sweat chloride concentration of 93 mM. He is pancreatic insufficient and suffers from mild lung disease complicated by Pseudomonas Aeruginosa infection.
Predicted by SNAP2:	A: D (59%), C: D (53%), D: D (80%), E: D (71%), F: N (61%), G: D (59%), H: D (59%), I: D (53%), K: D (63%), L: N (53%), M: D (53%), N: D (66%), P: D (80%), Q: D (63%), R: N (53%), S: D (63%), T: D (63%), V: N (57%), Y: N (72%),
Predicted by PROVEAN:	A: D, C: D, D: D, E: D, F: D, G: N, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, Y: D,

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Publications
[hide] Association between genotype and pulmonary phenoty... J Cyst Fibros. 2011 May;10(3):187-92. doi: 10.1016/j.jcf.2011.01.005. Epub 2011 Feb 26. Geborek A, Hjelte L
Association between genotype and pulmonary phenotype in cystic fibrosis patients with severe mutations.
J Cyst Fibros. 2011 May;10(3):187-92. doi: 10.1016/j.jcf.2011.01.005. Epub 2011 Feb 26., [PMID:21354377]

Abstract [show]
BACKGROUND: Despite numerous studies a clear relationship between genotype and pulmonary phenotype has not been established within the group pancreatic insufficient cystic fibrosis (CF) patients. We studied the relationship between class I and class II mutations and pulmonary function in Swedish patients with known CFTR functional classification. METHODS: 170 CF patients with two class II mutations, 18 with two class I mutations and 78 with a combination of class I and II mutations were included in the study. Spirometry was performed when patients were in an optimal clinical condition. RESULTS: Patients with two class I mutations had lower lung function (FEV(1) and FVC) compared to the group with either a combination of class I and II mutations or two class II mutations. CONCLUSION: CF patients carrying two class I mutations risk developing more severe lung disease compared to patients with at least one class II mutation.

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Sentences [show]
No. Sentence Comment
95 Class I/class I Class I/class II Class II/class II 1717-1 G-NA/1717-1 G-NA n=1 3659delC/S945L n=1 F508del/F508del n=165 3659delC/3659delC n=5 3659delC/F508del n=23 F508del/S945L n=5 3659delC/394delTT n=7 394delTT/F508del n=38 394delTT/394delTT n=4 621+1 G-NT/F508del n=6 R553X/E60X n=1 E60X/F508del n=4 G542X/F508del n=1 R553X/F508del n=2 W79R/F508del n=1 W1282X/F508del n=1 1717-1 G-NA/F508del n=1 Total 18 78 170 The other class combinations are not shown. Login to comment
98 Class I Class II Class III Class IV Class V 1717-1 G-NA F508del G551D 297 C-NA 2789+5 G-NA 3659delC S945L R560T R117C 3849+10 kb CNT 394delTT R347P A455E R553X T 3381 3849+10 kb C-T 621+1 G-NT E60X G542X W79R W1282X decline of pulmonary function was more rapid in patients with pancreatic insufficiency, mainly class II mutations, compared to CF patients with normal pancreatic function [4]. Login to comment