Variant position: 684 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 LTWQQYGALCGPRAWKETNM ARTQILCSHLEGHRVTWTGRF
Mouse LTWQQYGFLCGPRAWKETNM ARTQILCSHLEGHRVTWTGRF
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
Identification of novel WFS1 mutations in Italian children with Wolfram syndrome.
Tessa A.; Carbone I.; Matteoli M.C.; Bruno C.; Patrono C.; Patera I.P.; De Luca F.; Lorini R.; Santorelli F.M.;
Hum. Mutat. 17:348-349(2001)
Cited for: VARIANT WFS1 ILE-443; VARIANTS ILE-333; HIS-611; VAL-684 AND CYS-708;
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.
Rendtorff N.D.; Lodahl M.; Boulahbel H.; Johansen I.R.; Pandya A.; Welch K.O.; Norris V.W.; Arnos K.S.; Bitner-Glindzicz M.; Emery S.B.; Mets M.B.; Fagerheim T.; Eriksson K.; Hansen L.; Bruhn H.; Moller C.; Lindholm S.; Ensgaard S.; Lesperance M.M.; Tranebjaerg L.;
Am. J. Med. Genet. A 155:1298-1313(2011)
Cited for: VARIANTS WFSL VAL-684; SER-780 AND TYR-797; VARIANT WFS1 VAL-415 DEL; CHARACTERIZATION OF VARIANTS WFSL VAL-684 AND SER-780; CHARACTERIZATION OF VARIANT WFS1 VAL-415 DEL;
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.