UniProtKB/Swiss-Prot P04637: Variant p.Lys120Gln

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

120 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 Lysine (K) to Glutamine (Q) at position 120 (K120Q, p.Lys120Gln). 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 large size and basic (K) to medium size and polar (Q) 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 a sporadic cancer; somatic mutation; mimics lactylation, leading to decreased ability to undergo liquid-liquid phase separation and activate the transcription factor activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs121912658 [ dbSNP | Ensembl ]

Sequence information Variant position:

120 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:

QKTYQGSYGFRLGFLHSGTA K SVTCTYSPALNKMFCQLAKT 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                         QKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKT

                              PKTYPGTYGFRLGFLHSGTAKSVTWTYSPLLNKLFCQLAKT

Rhesus macaque                QKTYHGSYGFRLGFLHSGTAKSVTCTYSPDLNKMFCQLAKT

Mouse                         QKTYQGNYGFHLGFLQSGTAKSVMCTYSPPLNKLFCQLAKT

Rat                           QKTYQGNYGFHLGFLQSGTAKSVMCTYSISLNKLFCQLAKT

Pig                           QKTYPGSYDFRLGFLHSGTAKSVTCTYSPALNKLFCQLAKT

Bovine                        QKTYPGNYGFRLGFLQSGTAKSVTCTYSPSLNKLFCQLAKT

Rabbit                        QKTYHGNYGFRLGFLHSGTAKSVTCTYSPCLNKLFCQLAKT

Sheep                         QKTYPGNYGFRLGFLHSGTAKSVTCTYSPSLNKLFCQLAKT

Cat                           QKTYPGAYGFHLGFLQSGTAKSVTCTYSPPLNKLFCQLAKT

Chicken                       TEDYGGDFDFRVGFVEAGTAKSVTCTYSPVLNKVYCRLAKP

Xenopus laevis                TDDYAGKYGLQLDFQQNGTAKSVTCTYSPELNKLFCQLAKT

Zebrafish                     TSDYPGDHGFRLRFPQSGTAKSVTCTYSPDLNKLFCQLAKT

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.
Beta strand	118 – 120

Literature citations
Alanyl-tRNA synthetase, AARS1, is a lactate sensor and lactyltransferase that lactylates p53 and contributes to tumorigenesis.
Zong Z.; Xie F.; Wang S.; Wu X.; Zhang Z.; Yang B.; Zhou F.;
Cell 187:2375-2392(2024)
Cited for: FUNCTION; DOMAIN; LACTYLATION AT LYS-120 AND LYS-139; CHARACTERIZATION OF VARIANTS GLU-120; GLN-120; ASN-139; THR-139; GLN-139 AND GLU-139;

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.