Variant position: 1535 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:
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 EAINDKLQNKIQEIYEKEEQ FNIKQISEVQEKVNELKQFKE
Mouse ALTTAELERKVQELCEKQEE LTRKETSEAQGKMSELEQLRE
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.
Type Positions Description
1 – 2698 Centromere-associated protein E
336 – 2590
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.;
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;
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