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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q02224: Variant p.Asp933Asn

Centromere-associated protein E
Gene: CENPE
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Variant information Variant position: help 933 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 Aspartate (D) to Asparagine (N) at position 933 (D933N, p.Asp933Asn). 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 medium size and acidic (D) to medium size and polar (N) 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 MCPH13; results in defective mitotic spindle formation and chromosome segregation; results in delayed mitotic progression. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 933 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2701 The length of the canonical sequence.
Location on the sequence: help ITEKLQQTLEEVKTLTQEKD D LKQLQESLQIERDQLKSDIH 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                         ITEKLQQTLEEVKTLTQEKDDLKQLQESLQIERDQLKSDIH

Mouse                         LTEKLQQALKEVKALTQEKKNLKQLQESLQTERDQLRSDIQ
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 – 2698 Centromere-associated protein E
Coiled coil 336 – 2590



Literature citations
Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.
Mirzaa G.M.; Vitre B.; Carpenter G.; Abramowicz I.; Gleeson J.G.; Paciorkowski A.R.; Cleveland D.W.; Dobyns W.B.; O'Driscoll M.;
Hum. Genet. 133:1023-1039(2014)
Cited for: INVOLVEMENT IN MCPH13; VARIANTS MCPH13 ASN-933 AND GLU-1355; CHARACTERIZATION OF VARIANTS MCPH13 ASN-933 AND GLU-1355; VARIANTS LEU-1535 AND MET-2090;
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.