UniProtKB/Swiss-Prot P35222: Variant p.Gly34Glu

Catenin beta-1
Gene: CTNNB1
Chromosomal location: 3p21.3
Variant information

Variant position:  34
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Glycine (G) to Glutamate (E) at position 34 (G34E, p.Gly34Glu).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from glycine (G) to medium size and acidic (E)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Involvement in disease:  Pilomatrixoma (PTR) [MIM:132600]: Common benign skin tumor. {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:11703283}. Note=The gene represented in this entry is involved in disease pathogenesis.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In PTR.
Any additional useful information about the variant.

Sequence information

Variant position:  34
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  781
The length of the canonical sequence.

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.






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.

Chain 2 – 781 Catenin beta-1
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); alternate
Alternative sequence 1 – 565 Missing. In isoform 2.
Mutagenesis 29 – 29 S -> F. No effect.

Literature citations

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;

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.