Sequence information
Variant position: 248 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:
DCTTIHYNYMCNSSCMGGMN
R RPILTIITLEDSSGNLLGRN
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 DCTTIHYNYMCNSSCMGGMNR RPILTIITLEDSSGNLLGRN
DYTTIHYNYMCNSSCMGGMNR RPILTIITLEDSSGNVLGRN
Rhesus macaque DCTTIHYNYMCNSSCMGGMNR RPILTIITLEDSSGNLLGRN
Mouse EYTTIHYKYMCNSSCMGGMNR RPILTIITLEDSSGNLLGRD
Rat DYTTIHYKYMCNSSCMGGMNR RPILTIITLEDSSGNLLGRD
Pig DCTTIHYNFMCNSSCMGGMNR RPILTIITLEDASGNLLGRN
Bovine ECTTIHYNFMCNSSCMGGMNR RPILTIITLEDSCGNLLGRN
Rabbit DCTTIHYNYMCNSSCMGGMNR RPILTIITLEDSSGNLLGRN
Sheep ECTTIHYNFMCNSSCMGGMNR RPILTIITLEDSRGNLLGRS
Cat DCTTIHYNFMCNSSCMGGMNR RPIITIITLEDSNGKLLGRN
Chicken DCTTVLYNFMCNSSCMGGMNR RPILTILTLEGPGGQLLGRR
Xenopus laevis ECTTVLYNYMCNSSCMGGMNR RPILTIITLETPQGLLLGRR
Zebrafish EWTTVLLNYMCNSSCMGGMNR RPILTIITLETQEGQLLGRR
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.
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;
Molecular analysis of the TP53 gene in Barrett's adenocarcinoma.
Audrezet M.-P.; Robaszkiewicz M.; Mercier B.; Nousbaum J.-B.; Hardy E.; Bail J.-P.; Volant A.; Lozac'H P.; Gouerou H.; Ferec C.;
Hum. Mutat. 7:109-113(1996)
Cited for: VARIANTS SPORADIC CANCERS PHE-176; SER-245; TRP-248; TRP-282 AND GLN-286;
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;
Phosphorylation of Def Regulates Nucleolar p53 Turnover and Cell Cycle Progression through Def Recruitment of Calpain3.
Guan Y.; Huang D.; Chen F.; Gao C.; Tao T.; Shi H.; Zhao S.; Liao Z.; Lo L.J.; Wang Y.; Chen J.; Peng J.;
PLoS Biol. 14:e1002555-e1002555(2016)
Cited for: CHARACTERIZATION OF VARIANTS VAL-138; HIS-175; ILE-237; TRP-248 AND PRO-273;
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.