UniProtKB/SwissProt variant VAR

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

258
Type of variant:

LP/P [Disclaimer]
Residue change:

From Glutamate (E) to Lysine (K) at position 258 (E258K, p.Glu258Lys).
Physico-chemical properties:

Change from medium size and acidic (E) to large size and basic (K)
BLOSUM score:

1
Variant description:

In LFS; germline mutation and in sporadic cancers; somatic mutation.
Other resources:

Variant rs121912652 [ dbSNP | Ensembl ]

Sequence information Variant position:

258
Protein sequence length:

393
Location on the sequence:

CNSSCMGGMNRRPILTIITL E DSSGNLLGRNSFEVRVCACP
Residue conservation:

Human                         CNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACP

                              CNSSCMGGMNRRPILTIITLEDSSGNVLGRNSFEVRVCACP

Rhesus macaque                CNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACP

Mouse                         CNSSCMGGMNRRPILTIITLEDSSGNLLGRDSFEVRVCACP

Rat                           CNSSCMGGMNRRPILTIITLEDSSGNLLGRDSFEVRVCACP

Pig                           CNSSCMGGMNRRPILTIITLEDASGNLLGRNSFEVRVCACP

Bovine                        CNSSCMGGMNRRPILTIITLEDSCGNLLGRNSFEVRVCACP

Rabbit                        CNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACP

Sheep                         CNSSCMGGMNRRPILTIITLEDSRGNLLGRSSFEVRVCACP

Cat                           CNSSCMGGMNRRPIITIITLEDSNGKLLGRNSFEVRVCACP

Chicken                       CNSSCMGGMNRRPILTILTLEGPGGQLLGRRCFEVRVCACP

Xenopus laevis                CNSSCMGGMNRRPILTIITLETPQGLLLGRRCFEVRVCACP

Zebrafish                     CNSSCMGGMNRRPILTIITLETQEGQLLGRRSFEVRVCACP

Sequence annotation in neighborhood:

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	116 – 292	Interaction with AXIN1
Region	256 – 294	Interaction with E4F1
Binding site	238 – 238
Binding site	242 – 242
Modified residue	269 – 269	Phosphoserine; by AURKB
Mutagenesis	248 – 248	R -> S. Does not induce SNAI1 degradation.
Mutagenesis	269 – 269	S -> A. Abolishes phosphorylation.
Mutagenesis	269 – 269	S -> E. Inhibits strongly its transcriptional activity.
Beta strand	251 – 258

Literature citations
Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms.
Malkin D.; Li F.P.; Strong L.C.; Fraumeni J.F. Jr.; Nelson C.E.; Kim D.H.; Kassel J.; Gryka M.A.; Bischoff F.Z.; Tainsky M.A.; Friend S.H.;
Science 250:1233-1238(1990)
Cited for: VARIANTS LFS CYS-245; TRP-248; PRO-252 AND LYS-258;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P04637: Variant p.Glu258Lys