Sequence information
Variant position: 252 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:
IHYNYMCNSSCMGGMNRRPI
L TIITLEDSSGNLLGRNSFEV
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 IHYNYMCNSSCMGGMNRRPIL TIITLEDSSGNLLGRNSFEV
IHYNYMCNSSCMGGMNRRPIL TIITLEDSSGNVLGRNSFEV
Rhesus macaque IHYNYMCNSSCMGGMNRRPIL TIITLEDSSGNLLGRNSFEV
Mouse IHYKYMCNSSCMGGMNRRPIL TIITLEDSSGNLLGRDSFEV
Rat IHYKYMCNSSCMGGMNRRPIL TIITLEDSSGNLLGRDSFEV
Pig IHYNFMCNSSCMGGMNRRPIL TIITLEDASGNLLGRNSFEV
Bovine IHYNFMCNSSCMGGMNRRPIL TIITLEDSCGNLLGRNSFEV
Rabbit IHYNYMCNSSCMGGMNRRPIL TIITLEDSSGNLLGRNSFEV
Sheep IHYNFMCNSSCMGGMNRRPIL TIITLEDSRGNLLGRSSFEV
Cat IHYNFMCNSSCMGGMNRRPII TIITLEDSNGKLLGRNSFEV
Chicken VLYNFMCNSSCMGGMNRRPIL TILTLEGPGGQLLGRRCFEV
Xenopus laevis VLYNYMCNSSCMGGMNRRPIL TIITLETPQGLLLGRRCFEV
Zebrafish VLLNYMCNSSCMGGMNRRPIL TIITLETQEGQLLGRRSFEV
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
116 – 292
Interaction with AXIN1
Metal binding
238 – 238
Zinc
Metal binding
242 – 242
Zinc
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.