Variant position: 48 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 PDEDGMTPTLWAAYHGNLES LRLIVSRGGDPDKCDIWGNTP
Mouse PDEDGMTPTLWAAYHGNLES LRLIVSRGGDPDKCDIWGNTP
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
31 – 60 ANK 1
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.
Weil D.; El-Amraoui A.; Masmoudi S.; Mustapha M.; Kikkawa Y.; Laine S.; Delmaghani S.; Adato A.; Nadifi S.; Zina Z.B.; Hamel C.; Gal A.; Ayadi H.; Yonekawa H.; Petit C.;
Hum. Mol. Genet. 12:463-471(2003)
Cited for: VARIANT USH1G PRO-48; INTERACTION WITH USH1C; TISSUE SPECIFICITY; POSSIBLE FUNCTION;
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.