Variant position: 287 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 DYIILAILSCFCPMWPVNIV AFAYAVMSRNSLQQGDVDGAQ
Mouse DYIILAILSCFCPMWPVNIV AFAYAVMSRNSLQQGDVDGAQ
Rat DYIILAILSCFCPMWPVNIV AFAYAVMSRNSLQQGDVDGAQ
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
269 – 289 Helical
PRRT2 Mutant Leads to Dysfunction of Glutamate Signaling.
Li M.; Niu F.; Zhu X.; Wu X.; Shen N.; Peng X.; Liu Y.;
Int. J. Mol. Sci. 16:9134-9151(2015)
Cited for: INTERACTION WITH GRIA1 AND SNAP25; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT EKD1 THR-287;
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;
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.