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UniProtKB/Swiss-Prot Q12834: Variant p.Arg479Gln

Cell division cycle protein 20 homolog
Gene: CDC20
Variant information

Variant position:  479
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 Glutamine (Q) at position 479 (R479Q, p.Arg479Gln).
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 (Q)
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.



Sequence information

Variant position:  479
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  499
The length of the canonical sequence.

Location on the sequence:   ASAAADETLRLWRCFELDPA  R RREREKASAAKSSLIHQGIR
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                         ASAAADETLRLWRCFE-----------------------------LDPARRREREKASAAKSSLIHQGIR

Mouse                         ASAAADETLRLWRCFE-------------------------

Rat                           ASAAADETLRLWRCFE-------------------------

Pig                           ASAAADETLRLWRCFE-------------------------

Slime mold                    VSASADETLRFWRVFE-------------------------

Baker's yeast                 ATVGGDENLKFYKIFDPRCTGRSREDGLMDGMLGLIGKEGC

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 – 499 Cell division cycle protein 20 homolog
Repeat 441 – 480 WD 7
Cross 485 – 485 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Cross 490 – 490 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Mutagenesis 485 – 485 K -> R. Does not affect its ability to bind the APC/C complex; when associated with R-490.
Mutagenesis 490 – 490 K -> R. Does not affect its ability to bind the APC/C complex; when associated with R-485.


Literature citations

Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS MET-402 AND GLN-479;

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.