Variant position: 244 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 QYQITNNSAHYSYDHQTEEL NLWVRGCRAALLSYYSSLMNS
Mouse QYQLTNNSAHYSYDHQTEEL NLWLRGCRAALLNYYSSLMNS
Rat QYQLTNNSAHYSYDHQTEEL NLWLRGCRAALLNYYSSLMNS
Bovine QYQLTNNSAHYSYDHQTEEL NLWLRGCRAALLSYYSNLMNT
Cat QYQLTNNSAHYSYDHQTEEL NLWVRGCRAALLSYYGSLMNS
Chicken QYQVTNNSAHYSYDYQTEEL NLWGRGCREALLHYYSSMMSS
Xenopus laevis QLQVTNNSAHYSYDHQTEEL NLWSKGCKEALLNYYTSMMSS
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
A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP.
Kikawa E.; Nakazawa M.; Chida Y.; Shiono T.; Tamai M.;
Cited for: VARIANT RP7 LYS-244;
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