Sequence information
Variant position: 337 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:
QPKKKPLDGEYFTLQIRGRE
R FEMFRELNEALELKDAQAGK
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 QPK----KK----PLDGEYFTLQIRGRER FEMFRELNEALELKDAQAGK
PQK----KK----PLDGEYFTLQIRGRER YEMFRNLNEALE
Rhesus macaque QPK----KK----PLDGEYFTLQIRGRER FEMFRELNEALE
Mouse PQK----KK----PLDGEYFTLKIRGRKR FEMFRELNEALE
Rat QQK----KK----PLDGEYFTLKIRGRER FEMFRELNEALE
Pig VQK----KK----PLDGEYFTLQIRGRER FEMFRELNDALE
Bovine QPK----KK----PLDGEYFTLQIRGFKR YEMFRELNDALE
Rabbit QTK----KK----PLDGEYFILKIRGRER FEMFRELNEALE
Sheep QQK----KK----PLDGEYFTLQIRGRKR FEMFRELNEALE
Cat PQK----KK----PLDGEYFTLQIRGRER FEMFRELNEALE
Chicken PPK----KR--VLNPDNEIFYLQVRGRRR YEMLKEINEALQ
Xenopus laevis LPK----KRLVVVDDDEEIFTLRIKGRSR YEMIKKLNDALE
Zebrafish RPEGSKKAK--GSSSDEEIFTLQVRGRER YEILKKLNDSLE
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
Region
100 – 370
Interaction with HIPK1
Region
300 – 393
Interaction with CARM1
Region
319 – 360
Interaction with HIPK2
Region
325 – 356
Oligomerization
Modified residue
321 – 321
N6-acetyllysine
Modified residue
333 – 333
Omega-N-methylarginine; by PRMT5
Modified residue
335 – 335
Symmetric dimethylarginine; by PRMT5
Modified residue
337 – 337
Symmetric dimethylarginine; by PRMT5
Alternative sequence
332 – 346
IRGRERFEMFRELNE -> MLLDLRWCYFLINSS. In isoform 3, isoform 6 and isoform 9.
Alternative sequence
332 – 341
IRGRERFEMF -> DQTSFQKENC. In isoform 2, isoform 5 and isoform 8.
Mutagenesis
319 – 319
K -> A. Loss of nuclear localization; when associated with A-320 and A-321.
Mutagenesis
320 – 320
K -> A. Loss of nuclear localization; when associated with A-319 and A-321.
Mutagenesis
321 – 321
K -> A. Loss of nuclear localization; when associated with A-319 and A-320.
Mutagenesis
333 – 337
RGRER -> KGKEK. Reduced methylation by PRMT5. Reduced nuclear localization. Decreased binding to promoters of target genes. Reduced transcriptional activity. Decrease in cell cycle arrest.
Helix
335 – 354
Literature citations
An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma.
Ribeiro R.C.; Sandrini F.; Figueiredo B.; Zambetti G.P.; Michalkiewicz E.; Lafferty A.R.; DeLacerda L.; Rabin M.; Cadwell C.; Sampaio G.; Cat I.; Stratakis C.A.; Sandrini R.;
Proc. Natl. Acad. Sci. U.S.A. 98:9330-9335(2001)
Cited for: VARIANT ADCC HIS-337;
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.