Variant position: 195 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 FEIQWISNRYLDFSSKEVKD RIKSNVDGRYLVDGVPFSCCN
Mouse FEIQWISNRYLDFSSKEVKD RIKSNVDGRYLVDGVPFSCCN
Rat FEIQWISNRYLDFSSKEVKD RIKSNVDGRYLVDGVPFSCCN
Bovine FEIQWISNRYLDFSSKEVKD RIKSNVDGRYLVDGVPFSCCN
Cat FEIQWISNRYLDFSSKEVKD RIKSNVDGRYLVDGVPFSCCN
Chicken FEIQWISNRYLDFSSKEVKD RIKSNVDGRYLVDGVPFSCCN
Xenopus laevis FELQWVSNRYLGGRSKEVKD RIQSNVDGKYLIDGVPFSCCN
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
Clinical findings in a multigeneration family with autosomal dominant central areolar choroidal dystrophy associated with an Arg195Leu mutation in the peripherin/RDS gene.
Keilhauer C.N.; Meigen T.; Weber B.H.;
Arch. Ophthalmol. 124:1020-1027(2006)
Cited for: VARIANT CACD2 LEU-195;
PRPH2 (Peripherin/RDS) mutations associated with different macular dystrophies in a Spanish population: a new mutation.
Coco R.M.; Telleria J.J.; Sanabria M.R.; Rodriguez-Rua E.; Garcia M.T.;
Eur. J. Ophthalmol. 20:724-732(2010)
Cited for: VARIANTS VMD3 PHE-45 AND ILE-209; VARIANT CACD2 LEU-195;
In vivo analysis of disease-associated point mutations unveils profound differences in mRNA splicing of peripherin-2 in rod and cone photoreceptors.
Becirovic E.; Boehm S.; Nguyen O.N.; Riedmayr L.M.; Koch M.A.; Schulze E.; Kohl S.; Borsch O.; Santos-Ferreira T.; Ader M.; Michalakis S.; Biel M.;
PLoS Genet. 12:E1005811-E1005811(2016)
Cited for: CHARACTERIZATION OF VARIANTS RP7 ARG-198; LEU-210; SER-214 AND SER-249; CHARACTERIZATION OF VARIANT CACD2 LEU-195; CHARACTERIZATION OF VARIANT VMD3 ILE-209; CHARACTERIZATION OF VARIANT MDPT1 GLN-220;
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.