UniProtKB/SwissProt variant VAR

Variant information

Variant position:

583

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

Type of variant:

LB/B

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 Isoleucine (I) to Threonine (T) at position 583 (I583T, p.Ile583Thr).

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 (I) to medium size and polar (T)

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

Other resources:

Links to websites of interest for the variant.

Variant rs28363243 [ dbSNP | Ensembl ]

Sequence information

Variant position:

583

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

Protein sequence length:

747

The length of the canonical sequence.

Location on the sequence:

SSPDFVFMLSSKAGGCGLNL I GANRLVMFDPDWNPANDEQA

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                         SSPDFVFMLSSKAGGCGLNLIGANRLVMFDPDWNPANDEQA

Mouse                         SSPDFVFMLSSKAGGCGLNLIGANRLVMFDPDWNPANDEQA

Zebrafish                     SSPEFIFMLSSKAGGCGLNLIGANRLVMFDPDWNPANDEQA

Drosophila                    ESDSFLFMLSSKAGGCGLNLIGANRLFMFDPDWNPANDEQA

Baker's yeast                 EGQEFIFLLSSKAGGCGINLIGANRLILMDPDWNPAADQQA

Fission yeast                 EKDAFVFLLSSKAGGCGINLIGANRLILFDPDWNPAADQQA

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 – 747	DNA repair and recombination protein RAD54-like
Domain	500 – 653	Helicase C-terminal
Modified residue	572 – 572	Phosphoserine; by NEK1
Mutagenesis	572 – 572	S -> A. Defect in homologous recombination (HR).
Mutagenesis	572 – 572	S -> E. Promotes homologous recombination (HR), but causes RAD51 removal from chromatin.

Literature citations

Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLY-21; MET-74; CYS-202; GLN-380; CYS-534 AND THR-583;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q92698: Variant p.Ile583Thr