UniProtKB/SwissProt variant VAR

Variant information

Variant position:

309

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 Proline (P) to Serine (S) at position 309 (P309S, p.Pro309Ser).

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 medium size and hydrophobic (P) to small size and polar (S)

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

BLOSUM score:

-1

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 rs1555525012 [ dbSNP | Ensembl ]

Sequence information

Variant position:

309

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:

LRKKGEPHHELPPGSTKRAL P NNTSSSPQPKKKPLDGEYFT

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                         LRKKGEPH--HELPPGSTKRALPNNTS-SSPQPK----KK----PLDGEYFT

                              FHKKGEPC--PEPPPGSTKRALPPSTS-SSPPQK----KK-

Rhesus macaque                FRKKGEPC--HQLPPGSTKRALPNNTS-SSPQPK----KK-

Mouse                         FRKKEVLC--PELPPGSAKRALPTCTS-ASPPQK----KK-

Rat                           FRKKEEHC--PELPPGSAKRALPTSTS-SSPQQK----KK-

Pig                           FLKKGQSC--PEPPPGSTKRALPTSTS-SSPVQK----KK-

Bovine                        LRKKGQSC--PEPPPRSTKRALPTNTS-SSPQPK----KK-

Rabbit                        FRKKGEPC--PELPPGSSKRALPTTTTDSSPQTK----KK-

Sheep                         FRKKGQSC--PEPPPGSTKRALPSSTS-SSPQQK----KK-

Cat                           FRKKGEPC--PEPPPGSTKRALPPSTS-STPPQK----KK-

Chicken                       FRKRGGAG-------GVAKRAMSPPTE-APEPPK----KR-

Xenopus laevis                YTKKRGLK-----PSGKRELAHPPSSE--PPLPK----KRL

Zebrafish                     FKKDQETKTMAKTTTGTKRSLVKESSS-ATLRPEGSKKAK-

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	1 – 320	Interaction with CCAR2
Region	100 – 370	Interaction with HIPK1
Region	282 – 325	Disordered
Region	300 – 393	Interaction with CARM1
Motif	305 – 321	Bipartite nuclear localization signal
Compositional bias	305 – 319	Polar residues
Modified residue	305 – 305	N6-acetyllysine
Modified residue	315 – 315	Phosphoserine; by AURKA, CDK1 and CDK2
Modified residue	321 – 321	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	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.

Literature citations

Identification of a tumor-rejection antigen recognized by HLA-B46 restricted CTL.
Azuma K.; Shichijo S.; Itoh K.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS HIS-273 AND SER-309;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P04637: Variant p.Pro309Ser