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 SSPDFVFMLSSKAGGCGLNLI GANRLVMFDPDWNPANDEQA
Mouse SSPDFVFMLSSKAGGCGLNLI GANRLVMFDPDWNPANDEQA
Zebrafish SSPEFIFMLSSKAGGCGLNLI GANRLVMFDPDWNPANDEQA
Drosophila ESDSFLFMLSSKAGGCGLNLI GANRLFMFDPDWNPANDEQA
Baker's yeast EGQEFIFLLSSKAGGCGINLI GANRLILMDPDWNPAADQQA
Fission yeast EKDAFVFLLSSKAGGCGINLI GANRLILFDPDWNPAADQQA
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;
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.