Variant position: 216 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 346 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 IKSNVDGRYLVDGVPFSCCN PSSPRPCIQYQITNNSAHYSY
Mouse IKSNVDGRYLVDGVPFSCCN PSSPRPCIQYQLTNNSAHYSY
Rat IKSNVDGRYLVDGVPFSCCN PSSPRPCIQYQLTNNSAHYSY
Bovine IKSNVDGRYLVDGVPFSCCN PNSPRPCIQYQLTNNSAHYSY
Cat IKSNVDGRYLVDGVPFSCCN PNSPRPCIQYQLTNNSAHYSY
Chicken IKSNVDGRYLVDGVPFSCCN PSSPRPCIQYQVTNNSAHYSY
Xenopus laevis IQSNVDGKYLIDGVPFSCCN PSSPRPCIQLQVTNNSAHYSY
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 – 346 Peripherin-2
124 – 264 Lumenal
229 – 229 N-linked (GlcNAc...) asparagine
Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.
Kajiwara K.; Hahn L.B.; Mukai S.; Travis G.H.; Berson E.L.; Dryja T.P.;
Cited for: VARIANTS RP7 PRO-185; LEU-216 AND PRO-219 DEL;
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