Sequence information
Variant position: 278 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:
EDSSGNLLGRNSFEVRVCAC
P GRDRRTEEENLRKKGEPHHE
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 EDSSGNLLGRNSFEVRVCACP GRDRRTEEENLRKKGEPH--HE
EDSSGNVLGRNSFEVRVCACP GRDRRTEEENFHKKGEPC--
Rhesus macaque EDSSGNLLGRNSFEVRVCACP GRDRRTEEENFRKKGEPC--
Mouse EDSSGNLLGRDSFEVRVCACP GRDRRTEEENFRKKEVLC--
Rat EDSSGNLLGRDSFEVRVCACP GRDRRTEEENFRKKEEHC--
Pig EDASGNLLGRNSFEVRVCACP GRDRRTEEENFLKKGQSC--
Bovine EDSCGNLLGRNSFEVRVCACP GRDRRTEEENLRKKGQSC--
Rabbit EDSSGNLLGRNSFEVRVCACP GRDRRTEEENFRKKGEPC--
Sheep EDSRGNLLGRSSFEVRVCACP GRDRRTEEENFRKKGQSC--
Cat EDSNGKLLGRNSFEVRVCACP GRDRRTEEENFRKKGEPC--
Chicken EGPGGQLLGRRCFEVRVCACP GRDRKIEEENFRKRGGAG--
Xenopus laevis ETPQGLLLGRRCFEVRVCACP GRDRRTEEDNYTKKRGLK--
Zebrafish ETQEGQLLGRRSFEVRVCACP GRDRKTEESNFKKDQETKTM
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
Region
256 – 294
Interaction with E4F1
Region
273 – 280
Interaction with DNA
Modified residue
269 – 269
Phosphoserine; by AURKB
Modified residue
284 – 284
Phosphothreonine; by AURKB
Cross
291 – 291
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Cross
292 – 292
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Mutagenesis
269 – 269
S -> A. Abolishes phosphorylation.
Mutagenesis
269 – 269
S -> E. Inhibits strongly its transcriptional activity.
Mutagenesis
284 – 284
T -> E. Inhibits strongly its transcriptional activity.
Helix
278 – 287
Literature citations
Frequent mutation of the p53 gene in human esophageal cancer.
Hollstein M.C.; Metcalf R.A.; Welsh J.A.; Montesano R.; Harris C.C.;
Proc. Natl. Acad. Sci. U.S.A. 87:9958-9961(1990)
Cited for: VARIANTS SPORADIC CANCER VAL-154; VAL-245; GLN-248; LEU-278 AND SER-278;
Detection of p53 gene mutations in oral squamous cell carcinomas of a black African population sample.
van Rensburg E.J.; Engelbrecht S.; van Heerden W.F.P.; Kotze M.J.; Raubenheimer E.J.;
Hum. Mutat. 11:39-44(1998)
Cited for: VARIANTS SER-152; ILE-169; PHE-176; THR-195; CYS-220; ILE-230; CYS-273 AND SER-278;
The consensus coding sequences of human breast and colorectal cancers.
Sjoeblom T.; Jones S.; Wood L.D.; Parsons D.W.; Lin J.; Barber T.D.; Mandelker D.; Leary R.J.; Ptak J.; Silliman N.; Szabo S.; Buckhaults P.; Farrell C.; Meeh P.; Markowitz S.D.; Willis J.; Dawson D.; Willson J.K.V.; Gazdar A.F.; Hartigan J.; Wu L.; Liu C.; Parmigiani G.; Park B.H.; Bachman K.E.; Papadopoulos N.; Vogelstein B.; Kinzler K.W.; Velculescu V.E.;
Science 314:268-274(2006)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] LEU-134; PHE-157; CYS-163; HIS-175; ARG-177; ARG-193; PRO-213; PHE-241; PHE-242; GLN-248; TRP-248; SER-249; TRP-267; LYS-271; CYS-273; HIS-273; LEU-273; SER-278; ILE-280 AND HIS-281;
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.