Variant position: 272 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:
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 LTIITLEDSSGNLLGRNSFE VRVCACPGRDRRTEEENLRKK
Rhesus macaque LTIITLEDSSGNLLGRNSFE VRVCACPGRDRRTEEENFRKK
Mouse LTIITLEDSSGNLLGRDSFE VRVCACPGRDRRTEEENFRKK
Rat LTIITLEDSSGNLLGRDSFE VRVCACPGRDRRTEEENFRKK
Pig LTIITLEDASGNLLGRNSFE VRVCACPGRDRRTEEENFLKK
Bovine LTIITLEDSCGNLLGRNSFE VRVCACPGRDRRTEEENLRKK
Rabbit LTIITLEDSSGNLLGRNSFE VRVCACPGRDRRTEEENFRKK
Sheep LTIITLEDSRGNLLGRSSFE VRVCACPGRDRRTEEENFRKK
Cat ITIITLEDSNGKLLGRNSFE VRVCACPGRDRRTEEENFRKK
Chicken LTILTLEGPGGQLLGRRCFE VRVCACPGRDRKIEEENFRKR
Xenopus laevis LTIITLETPQGLLLGRRCFE VRVCACPGRDRRTEEDNYTKK
Zebrafish LTIITLETQEGQLLGRRSFE VRVCACPGRDRKTEESNFKKD
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
1 – 393 Cellular tumor antigen p53
102 – 292
1 – 320 Interaction with CCAR2
100 – 370 Interaction with HIPK1
100 – 300 Required for interaction with ZNF385A
116 – 292 Interaction with AXIN1
256 – 294 Interaction with E4F1
269 – 269 Phosphoserine; by AURKB
284 – 284 Phosphothreonine; by AURKB
291 – 291 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
292 – 292 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
269 – 269 S -> A. Abolishes phosphorylation.
269 – 269 S -> E. Inhibits strongly its transcriptional activity.
284 – 284 T -> E. Inhibits strongly its transcriptional activity.
264 – 274
Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia.
Felix C.A.; Nau M.M.; Takahashi T.; Mitsudomi T.; Chiba I.; Poplack D.G.; Reaman G.H.; Cole D.E.; Letterio J.J.; Whang-Peng J.; Knutsen T.; Minna J.D.;
J. Clin. Invest. 89:640-647(1992)
Cited for: VARIANT LFS LEU-272;
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.