UniProtKB/Swiss-Prot P04637: Variant p.Gln104His

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

104 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 Glutamine (Q) to Histidine (H) at position 104 (Q104H, p.Gln104His). 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 polar. 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.

Sequence information Variant position:

104 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:

APAPAPSWPLSSSVPSQKTY Q GSYGFRLGFLHSGTAKSVTC 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                         APAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTC

                              APGPAPSWPLSSSVPSPKTYPGTYGFRLGFLHSGTAKSVTW

Rhesus macaque                APAPAPSWPLSSSVPSQKTYHGSYGFRLGFLHSGTAKSVTC

Mouse                         APAPATPWPLSSFVPSQKTYQGNYGFHLGFLQSGTAKSVMC

Rat                           APASATPWPLSSSVPSQKTYQGNYGFHLGFLQSGTAKSVMC

Pig                           APAPATSWPLSSFVPSQKTYPGSYDFRLGFLHSGTAKSVTC

Bovine                        TPAPATSWPLSSFVPSQKTYPGNYGFRLGFLQSGTAKSVTC

Rabbit                        APAPATSWPLSSSVPSQKTYHGNYGFRLGFLHSGTAKSVTC

Sheep                         ALAPATSWPLSSFVPSQKTYPGNYGFRLGFLHSGTAKSVTC

Cat                           TPAPAISWPLSSFVPSQKTYPGAYGFHLGFLQSGTAKSVTC

Chicken                       NPPTPPRAAPSPVVPSTEDYGGDFDFRVGFVEAGTAKSVTC

Xenopus laevis                GNAVPTV--TSCAVPSTDDYAGKYGLQLDFQQNGTAKSVTC

Zebrafish                     EQPQPSTLPPTSTVPETSDYPGDHGFRLRFPQSGTAKSVTC

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	66 – 110	Interaction with WWOX
Region	100 – 370	Interaction with HIPK1
Region	100 – 300	Required for interaction with ZNF385A
Site	120 – 120	Interaction with DNA
Modified residue	120 – 120	N6-acetyllysine
Modified residue	120 – 120	N6-lactoyllysine
Alternative sequence	1 – 132	Missing. In isoform 7, isoform 8 and isoform 9.

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.