Variant position: 494 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 683 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 PKVRISNLMRVLGTEAVQDP TKVEAHVRAQMAKRQKAHEEA
Mouse PKVRISNLMRVLGTEAVQDP TKVEAHVRAQMAKRQKAHEEA
Bovine PKVRISNLMRVLGTEAVQDP TKVEAHVRAQMAKRQKAHEEA
Chicken PKVRISNLMRVLGTEAVQDP TKVEAHVRAQMAKRQKAHEEA
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 – 683 U4/U6 small nuclear ribonucleoprotein Prp3
416 – 550 Mediates interaction with SART3
417 – 683 Missing. In isoform 2.
Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.
Chakarova C.F.; Hims M.M.; Bolz H.; Abu-Safieh L.; Patel R.J.; Papaioannou M.G.; Inglehearn C.F.; Keen T.J.; Willis C.; Moore A.T.; Rosenberg T.; Webster A.R.; Bird A.C.; Gal A.; Hunt D.; Vithana E.N.; Bhattacharya S.S.;
Hum. Mol. Genet. 11:87-92(2002)
Cited for: VARIANTS RP18 SER-493 AND MET-494; TISSUE SPECIFICITY;
Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.
Martinez-Gimeno M.; Gamundi M.J.; Hernan I.; Maseras M.; Milla E.; Ayuso C.; Garcia-Sandoval B.; Beneyto M.; Vilela C.; Baiget M.; Antinolo G.; Carballo M.;
Invest. Ophthalmol. Vis. Sci. 44:2171-2177(2003)
Cited for: VARIANT RP18 MET-494;
Mutation in the splicing factor Hprp3p linked to retinitis pigmentosa impairs interactions within the U4/U6 snRNP complex.
Gonzalez-Santos J.M.; Cao H.; Duan R.C.; Hu J.;
Hum. Mol. Genet. 17:225-239(2008)
Cited for: CHARACTERIZATION OF VARIANT RP18 MET-494; SUBUNIT; SUBCELLULAR LOCATION;
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