Variant position: 141 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 LLRGSLENTLGQGLKNGMKY YRDTDTPGRCFMKKTIDMLQI
Mouse LLRGSLESTLAYGLKNGMKY YRDTDTPGRCFMKKTIDMLQI
Rat LLRGSLESTLAYGLKNGMKY YRDTDTPGRCFMKKTIDMLQI
Bovine LLRGSLESTLAHGLKNGMKF YRDTDTPGRCFMKKTIDMLQI
Cat LMRGSLESTLAQGLKNGMKY YRDTDTPGRCFMKKTIDLLQI
Chicken LMRGSLESTLAQGLKNSMKF YRDTDTPGRCFMKKTIDMLQI
Xenopus laevis LTRGSLESTLAHGLKNGMRY YKDTDIPGRCFLKKTIDLLQI
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
A novel RDS/peripherin gene mutation associated with diverse macular phenotypes.
Yang Z.; Li Y.; Jiang L.; Karan G.; Moshfeghi D.; O'Connor S.; Li X.; Yu Z.; Lewis H.; Zack D.; Jacobson S.; Zhang K.;
Ophthalmic Genet. 25:133-145(2004)
Cited for: VARIANT VMD3 CYS-141;
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.
Sullivan L.S.; Bowne S.J.; Birch D.G.; Hughbanks-Wheaton D.; Heckenlively J.R.; Lewis R.A.; Garcia C.A.; Ruiz R.S.; Blanton S.H.; Northrup H.; Gire A.I.; Seaman R.; Duzkale H.; Spellicy C.J.; Zhu J.; Shankar S.P.; Daiger S.P.;
Invest. Ophthalmol. Vis. Sci. 47:3052-3064(2006)
Cited for: VARIANT SER-137; VARIANTS RP7 CYS-141; ARG-198 AND ARG-216;
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.