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UniProtKB/Swiss-Prot P04637: Variant p.Met133Thr

Cellular tumor antigen p53
Gene: TP53
Variant information

Variant position:  133
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 implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Methionine (M) to Threonine (T) at position 133 (M133T, p.Met133Thr).
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 hydrophobic (M) to medium size and polar (T)
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 LFS; germline mutation and in sporadic cancers; somatic mutation.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  133
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  393
The length of the canonical sequence.

Location on the sequence:   FLHSGTAKSVTCTYSPALNK  M FCQLAKTCPVQLWVDSTPPP
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                         FLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPP

                              FLHSGTAKSVTWTYSPLLNKLFCQLAKTCPVQLWVSSPPPP

Rhesus macaque                FLHSGTAKSVTCTYSPDLNKMFCQLAKTCPVQLWVDSTPPP

Mouse                         FLQSGTAKSVMCTYSPPLNKLFCQLAKTCPVQLWVSATPPA

Rat                           FLQSGTAKSVMCTYSISLNKLFCQLAKTCPVQLWVTSTPPP

Pig                           FLHSGTAKSVTCTYSPALNKLFCQLAKTCPVQLWVSSPPPP

Bovine                        FLQSGTAKSVTCTYSPSLNKLFCQLAKTCPVQLWVDSPPPP

Rabbit                        FLHSGTAKSVTCTYSPCLNKLFCQLAKTCPVQLWVDSTPPP

Sheep                         FLHSGTAKSVTCTYSPSLNKLFCQLAKTCPVQLWVDSPPPP

Cat                           FLQSGTAKSVTCTYSPPLNKLFCQLAKTCPVQLWVRSPPPP

Chicken                       FVEAGTAKSVTCTYSPVLNKVYCRLAKPCPVQVRVGVAPPP

Xenopus laevis                FQQNGTAKSVTCTYSPELNKLFCQLAKTCPLLVRVESPPPR

Zebrafish                     FPQSGTAKSVTCTYSPDLNKLFCQLAKTCPVQMVVDVAPPQ

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.

TypePositionsDescription
Chain 1 – 393 Cellular tumor antigen p53
DNA binding 102 – 292
Region 1 – 320 Interaction with CCAR2
Region 100 – 370 Interaction with HIPK1
Region 100 – 300 Required for interaction with ZNF385A
Region 113 – 236 Required for interaction with FBXO42
Region 116 – 292 Interaction with AXIN1
Site 120 – 120 Interaction with DNA
Modified residue 120 – 120 N6-acetyllysine; by KAT6A
Beta strand 132 – 135


Literature citations

A germ line mutation in exon 5 of the p53 gene in an extended cancer family.
Law J.C.; Strong L.C.; Chidambaram A.; Ferrell R.E.;
Cancer Res. 51:6385-6387(1991)
Cited for: VARIANT LFS THR-133;

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.