Variant position: 245 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 VGSDCTTIHYNYMCNSSCMG GMNRRPILTIITLEDSSGNLL
Rhesus macaque VGSDCTTIHYNYMCNSSCMG GMNRRPILTIITLEDSSGNLL
Mouse AGSEYTTIHYKYMCNSSCMG GMNRRPILTIITLEDSSGNLL
Rat VGSDYTTIHYKYMCNSSCMG GMNRRPILTIITLEDSSGNLL
Pig VGSDCTTIHYNFMCNSSCMG GMNRRPILTIITLEDASGNLL
Bovine IDSECTTIHYNFMCNSSCMG GMNRRPILTIITLEDSCGNLL
Rabbit VGSDCTTIHYNYMCNSSCMG GMNRRPILTIITLEDSSGNLL
Sheep IESECTTIHYNFMCNSSCMG GMNRRPILTIITLEDSRGNLL
Cat VGSDCTTIHYNFMCNSSCMG GMNRRPIITIITLEDSNGKLL
Chicken VGSDCTTVLYNFMCNSSCMG GMNRRPILTILTLEGPGGQLL
Xenopus laevis VGTECTTVLYNYMCNSSCMG GMNRRPILTIITLETPQGLLL
Zebrafish LGAEWTTVLLNYMCNSSCMG GMNRRPILTIITLETQEGQLL
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.
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.;
Cited for: VARIANTS LFS CYS-245; TRP-248; PRO-252 AND LYS-258;
Frequent p53 mutations in head and neck cancer.
Somers K.D.; Merrick M.A.; Lopez M.E.; Incognito L.S.; Schechter G.L.; Casey G.;
Cancer Res. 52:5997-6000(1992)
Cited for: VARIANTS SPORADIC CANCERS PHE-176; PHE-242; CYS-245; LEU-248 AND HIS-273;
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.