ABCB11 p.Arg696Trp

[switch to full view]
Comments [show]
Publications
PMID: 24969679 [PubMed] Hu G et al: "Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing."
No. Sentence Comment
7 A total of 14 types of mutations/polymorphisms were identified in 20 patients from mainland China, including six missense mutations (p.Y337H, p.Y472C, p.R696W, p.Q931P, p.D1131V and p.H1198R), one nonsense mutation (p.R928X) and seven SNPs (p.D36D/rs3815675, p.F90F/rs4148777, p.Y269Y/rs2287616, p.I416I/rs183390670, p.V444A/rs2287622, p.A865V/rs118109635 and p.A1028A/rs497692).
X
ABCB11 p.Arg696Trp 24969679:7:153
status: NEW
Login to comment

112 Results MutationsandSNPsdetectedinpatients.Amongthe20 patients with cholestasis, 14 types of variants were detected, including seven mutations in the coding region (p.Y337H, p.Y472C, p.R696W, p.R928X, p.Q931P, p.D1131V and p.H1198R) and seven SNPs (p.D36D/rs3815675, p.F90F/rs4148777, p.Y269Y/rs2287616, p.I416I/rs183390670, p.V444A/rs2287622, p.A865V/rs118109635 and p.A1028A/rs497692).
X
ABCB11 p.Arg696Trp 24969679:112:185
status: NEW
Login to comment

113 Missense mutations p.Y337H, p.R696W, p.Q931P, p.D1131V and p.H1198R were novel mutations identified in the study.
X
ABCB11 p.Arg696Trp 24969679:113:30
status: NEW
Login to comment

118 Amino acid Carrier rate Variant Exon change RefSNP Patients and status in control (%) c.108T>C 4 D36D rs3815675 Heterozygous: P7, P11, P16 - c.270T>C 5 F90F rs4148777 Heterozygous: P6, P13 - c.807T>C 9 Y269Y rs2287616 Heterozygous: P7, P11, P16 - c.1009T>C 10 Y337H - Heterozygous: P5 0 c.1248C>A 12 I416I rs183390670 Heterozygous: P13 - c.1331T>C 13 V444A rs2287622 Heterozygous: P1, P5, P12, P16, P17, P19 94.5 Homozygous: P2, P3, P4, P6, P7, P8, P9, P10, P11, P14, P15, P18, P20 c.1415A>G 13 Y472C - Heterozygous: P3 0 c.2086C>T 18 R696W - Heterozygous: P11 0 c.2594C>T 21 A865V rs118109635 Heterozygous: P7, P17 - c.2782C>T 22 R928X - Heterozygous: P1 0 c.2792A>C 22 Q931P - Heterozygous: P4 0 c.3084A>G 24 A1028A rs497692 Heterozygous: P1, P8, P12, P13, P15, P16, P17, P20 90.5 Homozygous: P2, P3, P4, P5, P6, P7, P9, P10, P14, P18, P19 c.3392A>T 25 D1131V - Heterozygous: P3 0 c.3593A>G 26 H1198R - Heterozygous: P1 0 RefSNP refers to the reference SNP in the Single Nucleotide Polymorphism Database of NCBI.
X
ABCB11 p.Arg696Trp 24969679:118:591
status: NEW
Login to comment

122 The results based on comprehensive evaluation of SIFT, PolyPhen-2, SNPs&GO and evolution conservation indicated that p.Y337H, p.Y472C, p.R696W, p.D1131V and p.H1198R were likely damaging, p.Q931P and p.A865V were possibly damaging and p.V444A was predicted to be benign.
X
ABCB11 p.Arg696Trp 24969679:122:137
status: NEW
Login to comment

138 P5 6 d/M Progressive 46 NA 99.7/72.6 165/211 Heterozygous NA jaundice p.Y337H P11 4 d/M Progressive 74 204.6 75.4/54.3 481/600 Heterozygous NA jaundice p.R696W GGT, gamma-glutamyltransferase; TBA, total bile acid; TBIL, total bilirubin; DBIL, direct bilirubin; ALT, alanine transaminase; AST, aspartate transaminase; M, male; F, female; NA, not available.
X
ABCB11 p.Arg696Trp 24969679:138:185
status: NEW
Login to comment

141 Variant SIFT PolyPhen-2 SNPs&GO EC/EN c.1009T>C (Y337H) 0.01 0.996 Disease EC c.1331T>C (V444A) 0.34 0.001 Neutral EC c.1415A>G (Y472C) 0 1.000 Disease EC c.2086C>T (R696W) 0.02 0.999 Disease EC c.2594C>T (A865V) 0.07 0.880 Disease EC c.2792A>C (Q931P) 0.02 0.178 Disease EN c.3392A>T (D1131V) 0 1.000 Disease EC c.3593A>G (H1198R) 0 1.000 Disease EC SIFT, Sorting Intolerant From Tolerant (mutation of residues with SIFT scores <0.05 are predicted to be deleterious); PolyPhen-2, Polymorphism Phenotyping version 2 (a score <0.2 denotes benign variants, between 0.2 and 0.85 is possibly damaging and >0.85 is highly likely damaging); SNPs&GO, a web tool to predict function of SNPs with a result of neutral or disease-related variants for human; EC, evolutionarily conserved; EN, evolutionarily non-conserved; SNP, single nucleotide polymorphism. Table VI.
X
ABCB11 p.Arg696Trp 24969679:141:181
status: NEW
Login to comment

156 All the diseaseߛrelated mutations detected above were tested in 200 control subjects using HRM analysis to screen exon 10 (p.Y337H), exon 13 (p.Y472C), exon 18 (p.R696W), exon 22 (p.R928X), exon 22 (p.Q931P), exon 25 (p.D1131V) and exon 26 (p.H1198R).
X
ABCB11 p.Arg696Trp 24969679:156:169
status: NEW
Login to comment

179 Among the seven mutations identified in the study, p.Y337H, p.R696W, p.Q931P, p.D1131V and p.H1198R are novel mutations according to data from The Human Gene Mutation Database (http://www.
X
ABCB11 p.Arg696Trp 24969679:179:62
status: NEW
Login to comment