UniProtKB/SwissProt variant VAR

Variant information

Variant position:

290

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

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:

From Arginine (R) to Histidine (H) at position 290 (R290H, p.Arg290His).

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:

Change from large size and basic (R) to medium size and polar (H)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

0

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:

In LFS; germline mutation and in sporadic cancers; somatic mutation.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs55819519 [ dbSNP | Ensembl ]

Sequence information

Variant position:

290

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:

FEVRVCACPGRDRRTEEENL R KKGEPHHELPPGSTKRALPN

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                         FEVRVCACPGRDRRTEEENLRKKGEPH--HELPPGSTKRALPN

                              FEVRVCACPGRDRRTEEENFHKKGEPC--PEPPPGSTKRAL

Rhesus macaque                FEVRVCACPGRDRRTEEENFRKKGEPC--HQLPPGSTKRAL

Mouse                         FEVRVCACPGRDRRTEEENFRKKEVLC--PELPPGSAKRAL

Rat                           FEVRVCACPGRDRRTEEENFRKKEEHC--PELPPGSAKRAL

Pig                           FEVRVCACPGRDRRTEEENFLKKGQSC--PEPPPGSTKRAL

Bovine                        FEVRVCACPGRDRRTEEENLRKKGQSC--PEPPPRSTKRAL

Rabbit                        FEVRVCACPGRDRRTEEENFRKKGEPC--PELPPGSSKRAL

Sheep                         FEVRVCACPGRDRRTEEENFRKKGQSC--PEPPPGSTKRAL

Cat                           FEVRVCACPGRDRRTEEENFRKKGEPC--PEPPPGSTKRAL

Chicken                       FEVRVCACPGRDRKIEEENFRKRGGAG-------GVAKRAM

Xenopus laevis                FEVRVCACPGRDRRTEEDNYTKKRGLK-----PSGKRELAH

Zebrafish                     FEVRVCACPGRDRKTEESNFKKDQETKTMAKTTTGTKRSLV

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	282 – 325	Disordered
Compositional bias	282 – 301	Basic and acidic residues
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	284 – 284	T -> E. Inhibits strongly its transcriptional activity.
Helix	288 – 290

Literature citations

No reference for the current variant in UniProtKB/Swiss-Prot.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P04637: Variant p.Arg290His