ABCC7 p.Ser895Asn
| ClinVar: |
c.2684G>A
,
p.Ser895Asn
?
, not provided
|
| CF databases: |
c.2684G>C
,
p.Ser895Thr
(CFTR1)
?
, Asymptomatic subject
|
| Predicted by SNAP2: | A: N (87%), C: N (72%), D: N (72%), E: N (82%), F: N (57%), G: N (93%), H: N (78%), I: N (66%), K: N (82%), L: N (66%), M: N (78%), N: N (93%), P: N (66%), Q: N (87%), R: N (78%), T: N (93%), V: N (72%), W: D (71%), Y: N (82%), |
| 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: N, Y: N, |
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[hide] Two novel null mutations in a Taiwanese cystic fib... Am J Med Genet A. 2003 Jul 15;120A(2):296-8. Wong LJ, Alper OM, Wang BT, Lee MH, Lo SY
Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian CFTR mutations.
Am J Med Genet A. 2003 Jul 15;120A(2):296-8., 2003-07-15 [PMID:12833420]
Abstract [show]
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No. Sentence Comment
40 It is possible that 1898 þ 5G > T and cis 2215insG þ S895N are founder CF chromosomes in Taiwan.
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ABCC7 p.Ser895Asn 12833420:40:63
status: NEW[hide] Mutation spectrum of the CFTR gene in Taiwanese pa... Hum Reprod. 2005 Sep;20(9):2470-5. Epub 2005 May 19. Wu CC, Alper OM, Lu JF, Wang SP, Guo L, Chiang HS, Wong LJ
Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens.
Hum Reprod. 2005 Sep;20(9):2470-5. Epub 2005 May 19., [PMID:15905293]
Abstract [show]
BACKGROUND: Clinically affected cystic fibrosis (CF) patients present a spectrum of genital phenotypes ranging from normal fertility to moderately impaired spermatogenesis and congenital bilateral absence of vas deferens (CBAVD). Little is known about the CF incidence in the Taiwanese population. It has been shown that the CBAVD in men without clinical evidence of CF is associated with a high incidence of mutated CFTR (cystic fibrosis transmembrane conductance regulator) alleles. In order to understand the involvement of the CFTR gene in the aetiology of Asian/Taiwanese male infertility, we screened the entirety of the CFTR gene in 36 infertile males with CBAVD. METHODS: Temporal temperature gradient gel electrophoresis (TTGE) followed by direct DNA sequencing was used. RESULTS: Five mutations, p.V201M, p.N287K, c.-8G > C (125G > C), p.M469I and p.S895N, were found in five of the patients. p.N287K occurred in the first transmembrane-spanning domain, p.M469I in the first ATP-binding domain and p.S895N in the second transmembrane-spanning domain, were novel. In addition, seven homozygous and seven heterozygous 5T alleles in the intron 8 poly(T) tract were found. The overall frequency of CFTR mutant alleles in Taiwanese CBAVD males was 26 out of 72 = 36%. This finding was lower than the published frequency of CFTR mutations in other ethnic CBAVD patients (ranging from 50 to 74%). The frequency of p.M470V in Taiwanese CBAVD patients is not significantly different from that in the general population (P = 0.12). CONCLUSIONS: The results of this study add to the short list of Taiwanese/Asian CFTR mutations. Unlike Caucasian patients, the CFTR mutations cannot account for the majority of Taiwanese CBAVD. This is consistent with the low incidence of CF in the Asian/Taiwanese population. Furthermore, the mutation spectrum of CFTR in CBAVD patients does not overlap with the Caucasian CFTR mutation spectrum.
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No. Sentence Comment
45 (TG)11 7T/(TG)11 7T M/V 12 61 S895N/?
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ABCC7 p.Ser895Asn 15905293:45:30
status: NEW6 RESULTS: Five mutations, p.V201M, p.N287K, c.-8G > C (125G > C), p.M469I and p.S895N, were found in five of the patients.
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ABCC7 p.Ser895Asn 15905293:6:79
status: NEW7 p.N287K occurred in the first transmembrane-spanning domain, p.M469I in the first ATP-binding domain and p.S895N in the second transmembrane-spanning domain, were novel.
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ABCC7 p.Ser895Asn 15905293:7:107
status: NEW111 G) in the first transmembrane-spanning domain and p.S895N (c.2684 G .
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ABCC7 p.Ser895Asn 15905293:111:52
status: NEW116 The novel missense p.S895N mutation is predicted to be a mild change.
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ABCC7 p.Ser895Asn 15905293:116:21
status: NEW160 A (p.S895N).
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ABCC7 p.Ser895Asn 15905293:160:5
status: NEW[hide] Spectrum of mutations and variants/haplotypes of C... Clin Genet. 2007 Jun;71(6):530-9. Chang MC, Chang YT, Wei SC, Tien YW, Liang PC, Jan IS, Su YN, Wong JM
Spectrum of mutations and variants/haplotypes of CFTR and genotype-phenotype correlation in idiopathic chronic pancreatitis and controls in Chinese by complete analysis.
Clin Genet. 2007 Jun;71(6):530-9., [PMID:17539902]
Abstract [show]
Mutations in cystic fibrosis transmembrane conductance regulator (CFTR) gene have been reported in patients with chronic pancreatitis. The authors examine whether the mutations and haplotypes of CFTR will increase the risk of developing idiopathic chronic pancreatitis (ICP) in Chinese and their genotype and phenotype correlations. Seventy-eight patients with ICP and 200 geographically and ethnically matched controls in Taiwan were analyzed. The entire 27 coding and intronic regions of the CFTR gene were identified using heteroduplex analytical techniques and confirmed by sequencing analysis. The presence of 125G/C, 1001+10C>T, IVSTn(TG)m, 1540A>G, c2694T>G, and c4521G>A were determined by directing sequencing. Abnormal CFTR allele was found to be thrice as frequent in ICP patients as in controls (22/156 vs 19/400, p < 0.0001). T5 allele was associated with early onset of ICP. In six-loci haplotype analysis, 13 common haplotypes were assembled in the 278 individuals tested. The 125G/1001+11C/TG12/470M/2694T/4521G haplotype was associated with risk of ICP (odds ratio 11.3; 95% confidence interval 2.3-54.6, p = 0.008) in Chinese. The mutation spectrum is different from other ethnic groups. A population-specific panel of CFTR changes should be recommended for targeted populations including ICP in Chinese. It is important to design suitable screening programs for different populations.
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No. Sentence Comment
97 These mutations include I556V, G to A 3849145, N287Y, I125T, E217G, S895N, G1O69R, and Q1352H that have been found in patients with CP or CBAVD (http://www.genet.
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ABCC7 p.Ser895Asn 17539902:97:68
status: NEW109 (%) in ICP Controls (%) I556V Exon 11 A to G 1798 Amino acid substitution 7 (8.9) 2 (1) IVS8-5T Intron 8 deletaion of 2T between 1342-12 and 1342-6 Aberrant splicing 6 (7.7) 14 (7) G to A 3849145 Intron 19 G to A at 3849145 mRNA splicing defect 3 (3.8) 2 (1) N287Y Exon 6b A to T 991 Amino acid substitution 2 (2.6) 00 (0) I125T Exon 4 T to C 506 Amino acid substitution 1 (1.3) 00 (0) E217G Exon 6a A to G 782 Amino acid substitution 1 (1.3) 00 (0) S895N Exon 15 G to A 2816 Missense mutation 1 (1.3) 00 (0) G1O69R Exon 17b G to A 3337 Amino acid substitution 1 (1.3) 00 (0) Q1352H Exon 22 G to C at 4188 Amino acid substitution 0 (0.0) 1 (0.5) ICP, idiopathic chronic pancreatitis.
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ABCC7 p.Ser895Asn 17539902:109:450
status: NEW157 All our mutations are belonging to Ômild` mutations compatible with previous studies (6), including I556V, G to A 3849145, I125T, E217G, N287Y, S895N, G1O69R, and Q1352H.
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ABCC7 p.Ser895Asn 17539902:157:149
status: NEW173 S895N was found to be associated with CBAVD in Taiwanese (36).
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ABCC7 p.Ser895Asn 17539902:173:0
status: NEW[hide] Cystic fibrosis transmembrane conductance regulato... J Cyst Fibros. 2015 Sep;14(5):661-7. doi: 10.1016/j.jcf.2015.03.009. Epub 2015 Apr 11. Chang MC, Jan IS, Liang PC, Jeng YM, Yang CY, Tien YW, Wong JM, Chang YT
Cystic fibrosis transmembrane conductance regulator gene variants are associated with autoimmune pancreatitis and slow response to steroid treatment.
J Cyst Fibros. 2015 Sep;14(5):661-7. doi: 10.1016/j.jcf.2015.03.009. Epub 2015 Apr 11., [PMID:25869325]
Abstract [show]
BACKGROUND: Autoimmune pancreatitis (AIP) is a distinct type of chronic pancreatitis. To date, the association of CFTR gene variants with AIP has not been studied. METHODS: The entire coding and intronic regions of the CFTR gene were examined using next-generation sequencing in 89 AIP patients. Clinical features, including imaging, histology, serology, steroid treatment response and extra-pancreatic involvement, were compared between AIP patients with and without CFTR gene variants. RESULTS: A total of 28.1% (25/89) of the AIP patients carried 26 CFTR variants, including nine with I556V, seven with 5T, four with S42F, two with I125T, and one each with R31C, R553X, S895N, and G1069R. The presence of CFTR variants and age was independent predictors of the response to steroid treatment, as shown by multivariate analysis. CONCLUSIONS: CFTR variants are associated with AIP. Because AIP patients with CFTR variants show slower and reduced steroid treatment responses, different treatments should be considered in AIP patients with CFTR variants.
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No. Sentence Comment
8 Results: A total of 28.1% (25/89) of the AIP patients carried 26 CFTR variants, including nine with I556V, seven with 5T, four with S42F, two with I125T, and one each with R31C, R553X, S895N, and G1069R.
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ABCC7 p.Ser895Asn 25869325:8:185
status: NEW112 The identified variants included I556V in nine patients, 5T in seven, S42F in four, I125T in two, and R31C, R553X, S895N, and G1069R each in one patient (Table 1).
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ABCC7 p.Ser895Asn 25869325:112:115
status: NEW