ABCC7 p.Ser895Asn
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PMID: 12833420
[PubMed]
Wong LJ et al: "Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian CFTR mutations."
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
PMID: 15905293
[PubMed]
Wu CC et al: "Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens."
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
PMID: 17539902
[PubMed]
Chang MC et al: "Spectrum of mutations and variants/haplotypes of CFTR and genotype-phenotype correlation in idiopathic chronic pancreatitis and controls in Chinese by complete analysis."
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
PMID: 25869325
[PubMed]
Chang MC et al: "Cystic fibrosis transmembrane conductance regulator gene variants are associated with autoimmune pancreatitis and slow response to steroid treatment."
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