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UniProtKB/Swiss-Prot Q92698: Variant p.Arg534Cys

DNA repair and recombination protein RAD54-like
Gene: RAD54L
Variant information

Variant position:  534
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 Arginine (R) to Cysteine (C) at position 534 (R534C, p.Arg534Cys).
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 (C)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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.



Sequence information

Variant position:  534
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:   DKVVLVSNYTQTLDLFEKLC  R ARRYLYVRLDGTMSIKKRAK
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                         DKVVLVSNYTQTLDLFEKLCRARRYLYVRLDGTMSIKKRAK

Mouse                         DKVVLVSNYTQTLDLFEKLCRVRRYLYVRLDGTMSIKKRAK

Zebrafish                     DKVVLVSNYTQTLDLFEKLCRNRRYLYVRLDGTMSIKKRAK

Drosophila                    DKVVLISNYTQTLDLFEQLARKRKYGFVRLDGTMSIKKRSK

Baker's yeast                 DKIVLISNYTQTLDLIEKMCRYKHYSAVRLDGTMSINKRQK

Fission yeast                 DKIVLISNYTSTLDLFEQLCRARGYKALRLDGTMNVNKRQR

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.

TypePositionsDescription
Chain 1 – 747 DNA repair and recombination protein RAD54-like
Domain 500 – 653 Helicase C-terminal
Modified residue 515 – 515 N6-acetyllysine
Mutagenesis 515 – 515 K -> R. Loss of acetylation.


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.