UniProtKB/Swiss-Prot P04637: Variant p.Leu130Phe

Cellular tumor antigen p53
Gene: TP53
Feedback?

Variant information Variant position:

130 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 Phenylalanine (F) at position 130 (L130F, p.Leu130Phe). 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 (L) to large size and aromatic (F) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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 sporadic cancers; somatic mutation. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs863224683 [ dbSNP | Ensembl ]

Sequence information Variant position:

130 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:

RLGFLHSGTAKSVTCTYSPA L NKMFCQLAKTCPVQLWVDST 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                         RLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDST

                              RLGFLHSGTAKSVTWTYSPLLNKLFCQLAKTCPVQLWVSSP

Rhesus macaque                RLGFLHSGTAKSVTCTYSPDLNKMFCQLAKTCPVQLWVDST

Mouse                         HLGFLQSGTAKSVMCTYSPPLNKLFCQLAKTCPVQLWVSAT

Rat                           HLGFLQSGTAKSVMCTYSISLNKLFCQLAKTCPVQLWVTST

Pig                           RLGFLHSGTAKSVTCTYSPALNKLFCQLAKTCPVQLWVSSP

Bovine                        RLGFLQSGTAKSVTCTYSPSLNKLFCQLAKTCPVQLWVDSP

Rabbit                        RLGFLHSGTAKSVTCTYSPCLNKLFCQLAKTCPVQLWVDST

Sheep                         RLGFLHSGTAKSVTCTYSPSLNKLFCQLAKTCPVQLWVDSP

Cat                           HLGFLQSGTAKSVTCTYSPPLNKLFCQLAKTCPVQLWVRSP

Chicken                       RVGFVEAGTAKSVTCTYSPVLNKVYCRLAKPCPVQVRVGVA

Xenopus laevis                QLDFQQNGTAKSVTCTYSPELNKLFCQLAKTCPLLVRVESP

Zebrafish                     RLRFPQSGTAKSVTCTYSPDLNKLFCQLAKTCPVQMVVDVA

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
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
Modified residue	120 – 120	N6-lactoyllysine
Modified residue	139 – 139	N6-lactoyllysine
Alternative sequence	1 – 132	Missing. In isoform 7, isoform 8 and isoform 9.
Turn	128 – 131

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.