ABCC7 p.Leu568*
[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.Leu568* 15357566:4:130
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.Leu568* 16435054:76:259
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.Leu568* 9067754:8:49
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.Leu568* 9067754:115:29
status: NEW118 Moreover, the base substitution responsible for the novel L568X mutation (TÃA) belongs to the category of "conservative transversions."
X
ABCC7 p.Leu568* 9067754:118:58
status: NEW128 Finally, the L568X nonsense mutation was identified in the 2-year-old Vietnamese CF patient.
X
ABCC7 p.Leu568* 9067754:128:13
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.Leu568* 9067754:137:171
status: NEW