Variant position: 308 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 340 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 FAYAVMSRNSLQQGDVDGAQ RLGRVAKLLSIVALVGGVLII
Mouse FAYAVMSRNSLQQGDVDGAQ RLGRVAKLLSIVALVGGVLII
Rat FAYAVMSRNSLQQGDVDGAQ RLGRVAKLLSIVALVGGVLII
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 – 340 Proline-rich transmembrane protein 2
290 – 317 Cytoplasmic
294 – 340 SRNSLQQGDVDGAQRLGRVAKLLSIVALVGGVLIIIASCVINLGVYK -> VSPMGP. In isoform 3.
PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects.
Liu Y.T.; Nian F.S.; Chou W.J.; Tai C.Y.; Kwan S.Y.; Chen C.; Kuo P.W.; Lin P.H.; Chen C.Y.; Huang C.W.; Lee Y.C.; Soong B.W.; Tsai J.W.;
Cited for: SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT EKD1 CYS-308;
Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis.
Li J.; Zhu X.; Wang X.; Sun W.; Feng B.; Du T.; Sun B.; Niu F.; Wei H.; Wu X.; Dong L.; Li L.; Cai X.; Wang Y.; Liu Y.;
J. Med. Genet. 49:76-78(2012)
Cited for: VARIANTS EKD1 ARG-281; THR-287 AND CYS-308;
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