ABCC7 p.Val1147Ile
| ClinVar: |
c.3439G>A
,
p.Val1147Ile
?
, not provided
|
| CF databases: |
c.3439G>A
,
p.Val1147Ile
(CFTR1)
?
, This mutation was detected by DGGE and DNA sequencing. The patient is heterozygous for the mutation, He showed gastrointestinal symptoms, very frequent respiratory infections and heart problems. The disease symptoms appeared at the age of 7 months. The DGGE primers were supplied by Michel Goossens on behalf of the European Community Concerted Action for Coordination of Cystic Fibrosis Research and Therapy.
|
| Predicted by SNAP2: | A: D (71%), C: D (63%), D: D (91%), E: D (91%), F: D (91%), G: D (91%), H: D (91%), I: D (66%), K: D (95%), L: D (91%), M: D (66%), N: D (91%), P: D (91%), Q: D (91%), R: D (95%), S: D (80%), T: D (80%), W: D (95%), Y: D (91%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: N, K: D, L: N, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, W: D, Y: D, |
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[hide] Highest heterogeneity for cystic fibrosis: 36 muta... Am J Med Genet. 2002 Dec 1;113(3):250-7. Kilinc MO, Ninis VN, Dagli E, Demirkol M, Ozkinay F, Arikan Z, Cogulu O, Huner G, Karakoc F, Tolun A
Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients.
Am J Med Genet. 2002 Dec 1;113(3):250-7., 2002-12-01 [PMID:12439892]
Abstract [show]
We analyzed the CFTR locus in 83 Turkish cystic fibrosis patients to identify mutations, haplotypes, and the carrier frequency in the population. We detected 36 different mutations in 125 (75%) of the total 166 CF chromosomes. Seven novel mutations were identified: four missense (K68E, Q493P, E608G, and V1147I), two splice-site (406 -3T > C and 3849 +5G > A), and one deletion (CFTRdele17b,18). The data showed that the Turkish population has the highest genetic heterogeneity at the CFTR locus reported so far. The results of this thorough molecular analysis at the CFTR locus of a population not of European descent shows that CF is not uncommon in all such populations. The large number of mutations present, as well as the high heterogeneity in haplotypes associated with the mutations suggests that most of the mutations have persisted for a long time in the population. Consistently, the carrier frequency is assessed to be high, indicating that the disease in the population is ancient.
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No. Sentence Comment
2 Seven novel mutations were identified: four missense (K68E, Q493P, E608G, and V1147I), two splice-site (406 À3T > C and 3849 þ 5G > A), and one deletion (CFTRdele17b,18).
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ABCC7 p.Val1147Ile 12439892:2:78
status: NEW8 KEY WORDS: CF; Turkish; K68E; Q493P; E608G; V1147I; 406 À 3T > C; 3849 þ 5G > A; CFTRdele17b, 18 INTRODUCTION Cystic fibrosis (CF) is the most common autosomal recessive disorder in populations with European ancestry with about 1:25 carrier frequency with regional variation.
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ABCC7 p.Val1147Ile 12439892:8:44
status: NEW83 V1147I A G !
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ABCC7 p.Val1147Ile 12439892:83:0
status: NEW92 Sequencing results for six of the novel CF mutations: (a) 406 À 3T > C (sense); (b) V1147I (sense); (c) K68E (sense); (d) 3849 þ 5G > A (antisense); (e) Q493P (sense); (f) E608G (sense).
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ABCC7 p.Val1147Ile 12439892:92:89
status: NEW