Variant position: 1319 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2400 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 EEVQLEETKEGTEGEGLQEE AVQLEETKTEEGLQEEGVQLE
Mouse EGDALSEETEGRVRERLQEN SVH------------------
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 – 2400 Retinitis pigmentosa 1-like 1 protein
1310 – 1326 1-2; approximate
1275 – 1501 Disordered
1292 – 1342 3 X 16 AA approximate tandem repeats of T-E-E-G-L-Q-E-E-G-V-Q-L-E-E-T-K
1300 – 1344 Basic and acidic residues
223 – 2400 Missing. In isoform 2.
Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene.
Bowne S.J.; Daiger S.P.; Malone K.A.; Heckenlively J.R.; Kennan A.; Humphries P.; Hughbanks-Wheaton D.; Birch D.G.; Liu Q.; Pierce E.A.; Zuo J.; Huang Q.; Donovan D.D.; Sullivan L.S.;
Mol. Vis. 9:129-137(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELES RP1L1-1; RP1L1-2; RP1L1-3; RP1L1-4; RP1L1-5 AND RP1L1-6; ISOFORM 1); VARIANTS PRO-792; TRP-1146; SER-1285; GLY-1319; SER-1467; GLU-1946; ALA-1954; LYS-2171 AND GLY-2242; POLYMORPHISM;
Identification and characterization of the retinitis pigmentosa 1-like1 gene (rp1l1): a novel candidate for retinal degenerations.
Conte I.; Lestingi M.; den Hollander A.; Alfano G.; Ziviello C.; Pugliese M.; Circolo D.; Caccioppoli C.; Ciccodicola A.; Banfi S.;
Eur. J. Hum. Genet. 11:155-162(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE RP1L1-5; ISOFORM 1); VARIANTS SER-514 AND GLY-1319;
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.