Sequence information
Variant position: 41 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 781 The length of the canonical sequence.
Location on the sequence:
AVSHWQQQSYLDSGIHSGAT
T TAPSLSGKGNPEEEDVDTSQ
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human AVSHWQQQSYLDSGIHSGATT TAPSLSGKGNPEEEDVDTSQ
Mouse AVSHWQQQSYLDSGIHSGATT TAPSLSGKGNPEEEDVDTSQ
Rat AVSHWQQQSYLDSGIHSGATT TAPSLSGKGNPEEEDVDTSQ
Bovine AVSHWQQQSYLDSGIHSGATT TAPSLSGKGNPEEEDVDTTQ
Xenopus laevis AVSHWQQQSYLDSGIHSGATT TAPSLSGKGNPEDEDVDTNQ
Zebrafish AVSHWQQQSYLDSGIHSGATT TAPSLSGKGNPEDDDVD-NQ
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
Chain
2 – 781
Catenin beta-1
Region
34 – 57
Disordered
Compositional bias
34 – 48
Polar residues
Modified residue
23 – 23
Phosphoserine; by GSK3-beta; alternate
Modified residue
29 – 29
Phosphoserine; by GSK3-beta
Modified residue
33 – 33
Phosphoserine; by GSK3-beta and HIPK2
Modified residue
37 – 37
Phosphoserine; by GSK3-beta and HIPK2
Modified residue
41 – 41
Phosphothreonine; by GSK3-beta
Modified residue
45 – 45
Phosphoserine
Modified residue
49 – 49
N6-acetyllysine
Glycosylation
23 – 23
O-linked (GlcNAc) serine; alternate
Mutagenesis
29 – 29
S -> F. No effect.
Literature citations
Mutational analysis of beta-catenin gene in Japanese ovarian carcinomas: frequent mutations in endometrioid carcinomas.
Sagae S.; Kobayashi K.; Nishioka Y.; Sugimura M.; Ishioka S.; Nagata M.; Terasawa K.; Tokino T.; Kudo R.;
Jpn. J. Cancer Res. 90:510-515(1999)
Cited for: VARIANTS OVARIAN CANCER CYS-37; ILE-41 AND ALA-41;
A common human skin tumour is caused by activating mutations in beta-catenin.
Chan E.F.; Gat U.; McNiff J.M.; Fuchs E.;
Nat. Genet. 21:410-413(1999)
Cited for: VARIANTS PTR GLY-32; TYR-32; PHE-33; TYR-33; GLU-34; CYS-37; PHE-37 AND ILE-41;
Beta-catenin mutations in hepatocellular carcinoma correlate with a low rate of loss of heterozygosity.
Legoix P.; Bluteau O.; Bayer J.; Perret C.; Balabaud C.; Belghiti J.; Franco D.; Thomas G.; Laurent-Puig P.; Zucman-Rossi J.;
Oncogene 18:4044-4046(1999)
Cited for: VARIANTS HEPATOCELLULAR CARCINOMA ARG-23; 25-TRP--SER-33 DEL; ALA-32; GLY-32; TYR-32; LEU-33; PHE-33; ARG-34; SER-35; ALA-37; 37-SER-GLY-38 DELINS TRP; TYR-37; ALA-41; ILE-41; PHE-45 AND PRO-45;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.