Variant position: 261 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 689 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 PESSNPSAAAGGSSAKPSTD FHNLARELENSRGGSSCSPAQ
Mouse PEASNPPGSAGASSAKPSTD FHNLARELENSRGNSSCVAAP
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 – 689 PR domain zinc finger protein 8
185 – 333 Disordered
Early-onset Lafora body disease.
Turnbull J.; Girard J.M.; Lohi H.; Chan E.M.; Wang P.; Tiberia E.; Omer S.; Ahmed M.; Bennett C.; Chakrabarty A.; Tyagi A.; Liu Y.; Pencea N.; Zhao X.; Scherer S.W.; Ackerley C.A.; Minassian B.A.;
Cited for: SUBCELLULAR LOCATION; TISSUE SPECIFICITY; INTERACTION WITH EPM2A AND NHLRC1; LACK OF HISTONE METHYLTRANSFERASE ACTIVITY; INVOLVEMENT IN EPM10; VARIANT EPM10 LEU-261; CHARACTERIZATION OF VARIANT EPM10 LEU-261;
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