Variant position: 545 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 995 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 DIALGVLGGLAVLASLLKTA GWKRRIGSPMIDLQTVVKFLV
Mouse DIALGVLGGLAVLSSLLKTA GWKRRVGSPMIDLQTVMKFLL
Rat DIALGVLGGLAVLSSLLKTA GWKRRIGSPMIDLQTVMKFLL
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.
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.
Baala L.; Romano S.; Khaddour R.; Saunier S.; Smith U.M.; Audollent S.; Ozilou C.; Faivre L.; Laurent N.; Foliguet B.; Munnich A.; Lyonnet S.; Salomon R.; Encha-Razavi F.; Gubler M.-C.; Boddaert N.; de Lonlay P.; Johnson C.A.; Vekemans M.; Antignac C.; Attie-Bitach T.;
Am. J. Hum. Genet. 80:186-194(2007)
Cited for: VARIANTS JBTS6 CYS-513 AND GLU-545;
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