Variant position: 720 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 890 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 WTGRFKYVRVTDIDNSAESA I-NMLPFFIGDWMRCLYGEAYP
Mouse WTGRFKYVRVTEIDNSAESA I-NMLPFFLGDWMRCLYGEAY
Drosophila WEGSVTKVEISRVSNFLEDT IANYLPVWLGRMLRCLHGENI
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 – 890 Wolframin
653 – 869 Lumenal
Missense variations of the gene responsible for Wolfram syndrome (WFS1/wolframin) in Japanese: possible contribution of the Arg456His mutation to type 1 diabetes as a nonautoimmune genetic basis.
Awata T.; Inoue K.; Kurihara S.; Ohkubo T.; Inoue I.; Abe T.; Takino H.; Kanazawa Y.; Katayama S.;
Biochem. Biophys. Res. Commun. 268:612-616(2000)
Cited for: VARIANTS HIS-456; SER-576; HIS-611; CYS-653 AND VAL-720;
WFS1 gene mutation search in depressive patients: detection of five missense polymorphisms but no association with depression or bipolar affective disorder.
Ohtsuki T.; Ishiguro H.; Yoshikawa T.; Arinami T.;
J. Affect. Disord. 58:11-17(2000)
Cited for: VARIANTS HIS-456; SER-576; HIS-611; VAL-720 AND LYS-737;
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