Variant position: 458 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 461 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 KILGAVRRRRQAMERPPALE DTEL
Mouse KILGAVRRRRQALERPLALE DTEL
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 – 461 Usher syndrome type-1G protein
The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins.
Yan J.; Pan L.; Chen X.; Wu L.; Zhang M.;
Proc. Natl. Acad. Sci. U.S.A. 107:4040-4045(2010)
Cited for: X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 388-461 IN COMPLEX WITH USH1C; INTERACTION WITH USH1C; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT USH1G VAL-458;
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.
Kalay E.; de Brouwer A.P.M.; Caylan R.; Nabuurs S.B.; Wollnik B.; Karaguzel A.; Heister J.G.A.M.; Erdol H.; Cremers F.P.M.; Cremers C.W.R.J.; Brunner H.G.; Kremer H.;
J. Mol. Med. 83:1025-1032(2005)
Cited for: VARIANT USH1G VAL-458;
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