UniProtKB/Swiss-Prot P35222: Variant p.Thr41Ile

Catenin beta-1
Gene: CTNNB1
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Variant information Variant position:

41 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Threonine (T) to Isoleucine (I) at position 41 (T41I, p.Thr41Ile). 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 medium size and polar (T) to medium size and hydrophobic (I) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 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
Variant description:

In PTR, hepatocellular carcinoma and ovarian cancer. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs121913413 [ dbSNP | Ensembl ]

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                         AVSHWQQQSYLDSGIHSGATTTAPSLSGKGNPEEEDVDTSQ

                              AVSHWQQQSYLDSGIHSGATTTAPSLSGKGNPEEEDVDTTQ

Mouse                         AVSHWQQQSYLDSGIHSGATTTAPSLSGKGNPEEEDVDTSQ

Rat                           AVSHWQQQSYLDSGIHSGATTTAPSLSGKGNPEEEDVDTSQ

Bovine                        AVSHWQQQSYLDSGIHSGATTTAPSLSGKGNPEEEDVDTTQ

Xenopus laevis                AVSHWQQQSYLDSGIHSGATTTAPSLSGKGNPEDEDVDTNQ

Zebrafish                     AVSHWQQQSYLDSGIHSGATTTAPSLSGKGNPEDDDVD-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
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.