Sequence information
Variant position: 753 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1406 The length of the canonical sequence.
Location on the sequence:
YGDTISLSMFVRTLQPSGLL
L ALENSTYQYIRVWLERGRLA
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 YGDTISLSMFVRTLQPSGLLL ALENSTYQYIRVWLERGRLA
Mouse YGQNFSLSMFVRTRQPLGLLL ALENSTYQYVSVWLEHGSLA
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
Chain
26 – 1406
Protein crumbs homolog 1
Topological domain
26 – 1347
Extracellular
Domain
714 – 885
Laminin G-like 2
Glycosylation
757 – 757
N-linked (GlcNAc...) asparagine
Alternative sequence
710 – 1245
Missing. In isoform 5.
Literature citations
Clinical phenotypes in carriers of Leber congenital amaurosis mutations.
Galvin J.A.; Fishman G.A.; Stone E.M.; Koenekoop R.K.;
Ophthalmology 112:349-356(2005)
Cited for: VARIANTS LCA8 PRO-753; CYS-764 AND TYR-948;
Evaluation of genotype-phenotype associations in Leber congenital amaurosis.
Galvin J.A.; Fishman G.A.; Stone E.M.; Koenekoop R.K.;
Retina 25:919-929(2005)
Cited for: VARIANTS LCA8 ARG-480; TYR-681; PRO-753; CYS-764 AND TYR-948; VARIANT SER-488;
Disclaimer:
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.