Sequence information
Variant position: 564 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:
LSIQVNNQSKVLLFISHNTS
D GEWHFVEVIFAEAVTLTLID
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 LSIQVNNQSKVLLFISHNTSD GEWHFVEVIFAEAVTLTLID
Mouse LSIEVWNQLKVLLSISHNTSD GEWHFVEVTIAETLTLALVG
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
485 – 670
Laminin G-like 1
Glycosylation
550 – 550
N-linked (GlcNAc...) asparagine
Glycosylation
561 – 561
N-linked (GlcNAc...) asparagine
Literature citations
Gene symbol: CRB1. Disease: early onset retinitis pigmentosa.
Vallespin E.; Riveiro-Alvarez R.; Aguirre-Lamban J.; Cantalapiedra D.; Tapias I.; Garcia-Sandoval B.; Trujillo-Tiebas M.J.; Ayuso C.;
Hum. Genet. 119:681-681(2006)
Cited for: VARIANT LCA8 TYR-564;
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.