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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q12834: Variant p.Arg322Gln

Cell division cycle protein 20 homolog
Gene: CDC20
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Variant information Variant position: help 322 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Arginine (R) to Glutamine (Q) at position 322 (R322Q, p.Arg322Gln). 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: help 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: help 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: help In OZEMA14; severely decreased function in metaphase/anaphase transition of meiosis I; does not fully rescue metaphase I arrest in CDC20-knocked down mouse oocytes; decreased function in positive regulation of anaphase-promoting complex-dependent catabolic process; shows normal kinetochore localization. Any additional useful information about the variant.


Sequence information Variant position: help 322 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 499 The length of the canonical sequence.
Location on the sequence: help VATLSGHSQEVCGLRWAPDG R HLASGGNDNLVNVWPSAPGE 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         VATLSGHSQEVCGLRWAPDGRHLASGGNDNLVNVWPSAPGE

Mouse                         VATLSGHSQEVCGLRWAPDGRHLASGGNDNIVNVWPSGPGE

Rat                           VATLSGHSQEVCGLRWAPDGRHLASGGNDNIVNVWPSGPGE

Pig                           VATLSGHSQEVCGLRWAPDGRHLASGGNDNLVNVWPSAPGE

Slime mold                    VSTLSGHSQEVCGLKWSHDGGQLASGGNDNIINIWDINSEN

Baker's yeast                 VSTWAEHTGEVCGLSYKSDGLQLASGGNDNTVMIWDTRTS-
Sequence annotation in neighborhood: help 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 307 – 346 WD 4
Beta strand 321 – 328



Literature citations
Biallelic mutations in CDC20 cause female infertility characterized by abnormalities in oocyte maturation and early embryonic development.
Zhao L.; Xue S.; Yao Z.; Shi J.; Chen B.; Wu L.; Sun L.; Xu Y.; Yan Z.; Li B.; Mao X.; Fu J.; Zhang Z.; Mu J.; Wang W.; Du J.; Liu S.; Dong J.; Wang W.; Li Q.; He L.; Jin L.; Liang X.; Kuang Y.; Sun X.; Wang L.; Sang Q.;
Protein Cell 11:921-927(2020)
Cited for: INVOLVEMENT IN OZEMA14; VARIANTS OZEMA14 182-ARG--ARG-499 DEL; CYS-228; GLN-322 AND ARG-439; CHARACTERIZATION OF VARIANTS OZEMA14 182-ARG--ARG-499 DEL; CYS-228; GLN-322 AND ARG-439; SUBCELLULAR LOCATION; FUNCTION; Identification of novel mutations in CDC20: Expanding the mutational spectrum for female infertility.
Zhao L.; Guan Y.; Meng Q.; Wang W.; Wu L.; Chen B.; Hu J.; Zhu J.; Zhang Z.; Mu J.; Chen Y.; Sun Y.; Wu T.; Wang W.; Zhou Z.; Dong J.; Zeng Y.; Liu R.; Li Q.; Du J.; Kuang Y.; Sang Q.; Wang L.;
Front. Cell Dev. Biol. 9:647130-647130(2021)
Cited for: VARIANTS OZEMA14 GLN-296; 322-ARG--ARG-499 DEL; GLN-322 AND CYS-385; CHARACTERIZATION OF VARIANTS OZEMA14 GLN-296; 322-ARG--ARG-499 DEL; GLN-322 AND CYS-385;
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.