UniProtKB/Swiss-Prot P04637: Variant p.Leu45Met

Cellular tumor antigen p53
Gene: TP53
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Variant information Variant position:

45 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 Leucine (L) to Methionine (M) at position 45 (L45M, p.Leu45Met). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. 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
Variant description:

In a sporadic cancer; somatic mutation. Any additional useful information about the variant.

Sequence information Variant position:

45 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:

LLPENNVLSPLPSQAMDDLM L SPDDIEQWFTEDPGPDEAPR 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                         LLPENNVLSPLPS-QA--MDDLMLSPDDIEQW--FTEDPGPDEAPR

                              LLPENNVLSSELC-PA--VDELLL-PESVVNW--LDED--S

Rhesus macaque                LLPENNVLSPLPS-QA--VDDLMLSPDDLAQW--LTEDPGP

Mouse                         LLPPEDILPSPHC-----MDDLLL-PQDVEEF--FEG---P

Rat                           LLPPDDILPTTATGSPNSMEDLFL-PQDVAEL--LEG---P

Pig                           LLPENNLLSSELSLAA--VNDLLLSP--VTNW--LDEN--P

Bovine                        LLPENNLLSSELS-AP--VDDLLP-YTDVATW--LDEC--P

Rabbit                        LLPENNLLTTSLN-PP--VDDLLS-AEDVANW--LNED--P

Sheep                         LLPENNLLSSELS-AP--VDDLLPYSEDVVTW--LDEC--P

Cat                           LLPENNVLSSELS-SA--MNELPL-SEDVANW--LDEA--P

Chicken                       MLPYS-------------MQQLPL-PEDHSNW--QELSPLE

Xenopus laevis                LLPDP--------------------LQTVTCR--LDN---L

Zebrafish                     ------------------KNLIIQPPGGGSCWDIIND---E

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	1 – 393	Cellular tumor antigen p53
Region	1 – 320	Interaction with CCAR2
Region	1 – 83	Interaction with HRMT1L2
Modified residue	33 – 33	Phosphoserine; by CDK5 and CDK7
Modified residue	37 – 37	Phosphoserine; by MAPKAPK5
Modified residue	46 – 46	Phosphoserine; by CDK5, DYRK2, HIPK2 and PKC/PRKCG
Modified residue	55 – 55	Phosphothreonine; by TAF1 and GRK5
Alternative sequence	1 – 132	Missing. In isoform 7, isoform 8 and isoform 9.
Mutagenesis	37 – 37	S -> D. Abolishes phosphorylation by MAPKAPK5.
Mutagenesis	46 – 46	S -> A. Abolishes phosphorylation by DYRK2 and HIPK2 and acetylation of K-382 by CREBBP.
Mutagenesis	46 – 46	Missing. Alters interaction with WWOX.
Mutagenesis	55 – 55	T -> A. Blocks phosphorylation by TAF1.

Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.

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.