Variant position: 45 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 PSVTKVTPAKKITFLKRGDP RFAGVRLAVHQRAFKTFSALM
Mouse PSVTEVTPAKKITFLKRGDP QFAGVRLAVHQRTFKTFSSLM
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
34 – 118 Doublecortin 1
Dominant mutations in RP1L1 are responsible for occult macular dystrophy.
Akahori M.; Tsunoda K.; Miyake Y.; Fukuda Y.; Ishiura H.; Tsuji S.; Usui T.; Hatase T.; Nakamura M.; Ohde H.; Itabashi T.; Okamoto H.; Takada Y.; Iwata T.;
Am. J. Hum. Genet. 87:424-429(2010)
Cited for: INVOLVEMENT IN OCMD; VARIANTS OCMD TRP-45 AND ARG-960;
Phenotype variations caused by mutations in the RP1L1 gene in a large mainly German cohort.
Zobor D.; Zobor G.; Hipp S.; Baumann B.; Weisschuh N.; Biskup S.; Sliesoraityte I.; Zrenner E.; Kohl S.;
Invest. Ophthalmol. Vis. Sci. 59:3041-3052(2018)
Cited for: VARIANTS OCMD TRP-45; HIS-950 AND ASP-1200; VARIANTS RP88 GLN-152; 369-TRP--PHE-2400 DEL; 1008-GLN--PHE-2400 DEL AND 1987-GLN--PHE-2400 DEL;
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.