UniProtKB/Swiss-Prot P04637: Variant p.Lys139Asn

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

139 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 Asparagine (N) at position 139 (K139N, p.Lys139Asn). 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 (N) 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; 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.

Sequence information Variant position:

139 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:

AKSVTCTYSPALNKMFCQLA K TCPVQLWVDSTPPPGTRVRA 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                         AKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRA

                              AKSVTWTYSPLLNKLFCQLAKTCPVQLWVSSPPPPNTCVRA

Rhesus macaque                AKSVTCTYSPDLNKMFCQLAKTCPVQLWVDSTPPPGSRVRA

Mouse                         AKSVMCTYSPPLNKLFCQLAKTCPVQLWVSATPPAGSRVRA

Rat                           AKSVMCTYSISLNKLFCQLAKTCPVQLWVTSTPPPGTRVRA

Pig                           AKSVTCTYSPALNKLFCQLAKTCPVQLWVSSPPPPGTRVRA

Bovine                        AKSVTCTYSPSLNKLFCQLAKTCPVQLWVDSPPPPGTRVRA

Rabbit                        AKSVTCTYSPCLNKLFCQLAKTCPVQLWVDSTPPPGTRVRA

Sheep                         AKSVTCTYSPSLNKLFCQLAKTCPVQLWVDSPPPPGTRVRA

Cat                           AKSVTCTYSPPLNKLFCQLAKTCPVQLWVRSPPPPGTCVRA

Chicken                       AKSVTCTYSPVLNKVYCRLAKPCPVQVRVGVAPPPGSSLRA

Xenopus laevis                AKSVTCTYSPELNKLFCQLAKTCPLLVRVESPPPRGSILRA

Zebrafish                     AKSVTCTYSPDLNKLFCQLAKTCPVQMVVDVAPPQGSVVRA

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

Literature citations
Inhibition of mutant p53 expression and growth of DMS-153 small cell lung carcinoma by antagonists of growth hormone-releasing hormone and bombesin.
Kanashiro C.A.; Schally A.V.; Groot K.; Armatis P.; Bernardino A.L.; Varga J.L.;
Proc. Natl. Acad. Sci. U.S.A. 100:15836-15841(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-379 (ISOFORM 1); VARIANTS ASN-139 AND PRO-155; 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.