ABCC7 p.Lys166Glu
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 15357566
[PubMed]
Ngukam A et al: "A novel missense mutation A1081P in the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a Laotian patient with congenital bilateral absence of the vas deferens."
No.
Sentence
Comment
4
Only a few CFTR mutations have been identified in that population (L88X, M152R, K166E, F508del, 1742delAC, 1525-18G>A, 1540del10, L568X, 1898ϩ1G>T, 1898ϩ5G>T, G970D, 451-458del8, 3121-2A>G, H1085R).1-6 We report here a novel missense mutation in a Laotian patient with congenital bilateral absence of the vas deferens (CBAVD).
X
ABCC7 p.Lys166Glu 15357566:4:80
status: NEW
PMID: 16435054
[PubMed]
Zilfalil BA et al: "Detection of F508del mutation in cystic fibrosis transmembrane conductance regulator gene mutation among Malays."
No.
Sentence
Comment
76
The novel mutations found in Asian populations include a missense mutation A1081P in CFTR gene reported on a Loatian patient with CBAVD(6) , two novel mutations, E7X and 989-992insA, in a Taiwanese cystic fibrosis patient(7) and three Asian mutations, K166E, L568X and 3121-2A‡G (in homozygosity), reported by Macek et al(8) .
X
ABCC7 p.Lys166Glu 16435054:76:252
status: NEW
PMID: 9067754
[PubMed]
Macek M Jr et al: "Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene."
No.
Sentence
Comment
8
Three novel Asian mutations were detected-K166E, L568X, and 3121-2 AÃG (in homozygosity)-accounting for all CF alleles.
X
ABCC7 p.Lys166Glu 9067754:8:42
status: NEW31 DNA samples from 100 healthy random South Korean individuals were used in population screening for the K166E mutation identified in this study.
X
ABCC7 p.Lys166Glu 9067754:31:103
status: NEW58 Population screening for the K166E mutation by ASO hybridization was performed using published conditions, with PCR primers 5i5´ and 5i3´ and mutant probe K166E-MUT; 5´-CTT GAC AGC TCT AAA GTC T-3´, with a final wash at 51°C (Zielenski et al., 1991; Cutting et al., 1992).
X
ABCC7 p.Lys166Glu 9067754:58:29
status: NEWX
ABCC7 p.Lys166Glu 9067754:58:165
status: NEW115 Three novel mutations K166E, L568X, and 3121-2 AÃG (in homozygosity) were discovered accounting for all unknown CF alleles (Table 2).
X
ABCC7 p.Lys166Glu 9067754:115:22
status: NEW119 The K166E mutation in the Korean-American 17-year-old girl occurs on the CF chromosome inherited from her Asian mother.
X
ABCC7 p.Lys166Glu 9067754:119:4
status: NEW123 The K166E mutations may be classified as "mild," with regard to pancreatic function, since this almost adult CF patient remains pancreatic sufficient.
X
ABCC7 p.Lys166Glu 9067754:123:4
status: NEW137 Novel CFTR Mutations Identified in Asian CF Patientsa Mutation Nucloetide change Exon/intron Consequence CFTR domain K166E AÃG at 628 E5 Lys à Glu at 166 L568X TÃA at 1835 E12 Leu à stop NBD I 31212 AÃG AÃG at 31212 I16 Splice mutation TM 9 The position of a nucleotide change together with its location in the CFTR gene (E, exon; I, intron) and the amino acid designation are according to Zielenski et al. (1991).
X
ABCC7 p.Lys166Glu 9067754:137:117
status: NEW
PMID: 8968585
[PubMed]
Xie J et al: "Human epithelial cystic fibrosis transmembrane conductance regulator without exon 5 maintains partial chloride channel function in intracellular membranes."
No.
Sentence
Comment
204
The facts that a splice mutation that deletes exon 5 was found to be a cystic fibrosis disease-causing mutant and that there is an array of cystic fibrosis mutations in the region encoded by exon 5 (L165S, K166E, R170C, 1175V, G178R, D192N, D192G, E193K; Fonknechten et al., 1992; Romey et al., 1994; Zielenski et al., 1991; Audrezet et al., 1994; Mercier et al., 1995; Cystic Fibrosis Mutation Data Base) suggest that exon 5 is important for the structure, function, or both of the CFTR chloride channel.
X
ABCC7 p.Lys166Glu 8968585:204:206
status: NEW205 The facts that a splice mutation that deletes exon 5 was found to be a cystic fibrosis disease-causing mutant and that there is an array of cystic fibrosis mutations in the region encoded by exon 5 (L165S, K166E, R170C, 1175V, G178R, D192N, D192G, E193K; Fonknechten et al., 1992; Romey et al., 1994; Zielenski et al., 1991; Audrezet et al., 1994; Mercier et al., 1995; Cystic Fibrosis Mutation Data Base) suggest that exon 5 is important for the structure, function, or both of the CFTR chloride channel.
X
ABCC7 p.Lys166Glu 8968585:205:206
status: NEW