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UniProtKB/Swiss-Prot Q02224: Variant p.Thr2090Met

Centromere-associated protein E
Gene: CENPE
Variant information

Variant position:  2090
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 Threonine (T) to Methionine (M) at position 2090 (T2090M, p.Thr2090Met).
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 medium size and polar (T) to medium size and hydrophobic (M)
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:  2090
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  2701
The length of the canonical sequence.

Location on the sequence:   RQNHQVKPEKRLLSDGQQHL  T ESLREKCSRIKELLKRYSEM
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                         RQNHQ--VKPEKRLLSDGQQHLTESLREKCSRIKELLKRYSEM

Mouse                         HQNHEETMKCGKGLLCAG-EYCTGRLREKCFRIEKLLKRYS

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 – 2698 Centromere-associated protein E
Coiled coil 336 – 2590
Modified residue 2083 – 2083 Phosphoserine


Literature citations

CENP-E is a putative kinetochore motor that accumulates just before mitosis.
Yen T.J.; Li G.; Schaar B.T.; Szilak I.; Cleveland D.W.;
Nature 359:536-539(1992)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS LEU-1535 AND MET-2090;

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.