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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P04637: Variant p.Glu285Gln

Cellular tumor antigen p53
Gene: TP53
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Variant information Variant position: help 285 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Glutamate (E) to Glutamine (Q) at position 285 (E285Q, p.Glu285Gln). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and acidic (E) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description: help In LFS; germline mutation and in sporadic cancers; somatic mutation. Any additional useful information about the variant.


Sequence information Variant position: help 285 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 393 The length of the canonical sequence.
Location on the sequence: help LGRNSFEVRVCACPGRDRRT E EENLRKKGEPHHELPPGSTK 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         LGRNSFEVRVCACPGRDRRTEEENLRKKGEPH--HELPPGSTK

                              LGRNSFEVRVCACPGRDRRTEEENFHKKGEPC--PEPPPGS

Rhesus macaque                LGRNSFEVRVCACPGRDRRTEEENFRKKGEPC--HQLPPGS

Mouse                         LGRDSFEVRVCACPGRDRRTEEENFRKKEVLC--PELPPGS

Rat                           LGRDSFEVRVCACPGRDRRTEEENFRKKEEHC--PELPPGS

Pig                           LGRNSFEVRVCACPGRDRRTEEENFLKKGQSC--PEPPPGS

Bovine                        LGRNSFEVRVCACPGRDRRTEEENLRKKGQSC--PEPPPRS

Rabbit                        LGRNSFEVRVCACPGRDRRTEEENFRKKGEPC--PELPPGS

Sheep                         LGRSSFEVRVCACPGRDRRTEEENFRKKGQSC--PEPPPGS

Cat                           LGRNSFEVRVCACPGRDRRTEEENFRKKGEPC--PEPPPGS

Chicken                       LGRRCFEVRVCACPGRDRKIEEENFRKRGGAG-------GV

Xenopus laevis                LGRRCFEVRVCACPGRDRRTEEDNYTKKRGLK-----PSGK

Zebrafish                     LGRRSFEVRVCACPGRDRKTEESNFKKDQETKTMAKTTTGT

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
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 282 – 325 Disordered
Compositional bias 282 – 301 Basic and acidic residues
Modified residue 269 – 269 Phosphoserine; by AURKB
Modified residue 284 – 284 Phosphothreonine; by AURKB
Modified residue 305 – 305 N6-acetyllysine
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
No reference for the current variant in UniProtKB/Swiss-Prot.
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.