Variant position: 716 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 HRVTWTGRFKYVRVTDIDNS AESAINMLPFFIGDWMRCLYG
Mouse HRVTWTGRFKYVRVTEIDNS AESAINMLPFFLGDWMRCLYG
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
Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.
Bespalova I.N.; Van Camp G.; Bom S.J.H.; Brown D.J.; Cryns K.; DeWan A.T.; Erson A.E.; Flothmann K.; Kunst H.P.M.; Kurnool P.; Sivakumaran T.A.; Cremers C.W.R.J.; Leal S.M.; Burmeister M.; Lesperance M.M.;
Hum. Mol. Genet. 10:2501-2508(2001)
Cited for: VARIANTS DFNA6 MET-699; THR-716; MET-779; PRO-829 AND ASP-831; VARIANT ILE-333;
Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1.
Young T.-L.; Ives E.; Lynch E.; Person R.; Snook S.; MacLaren L.; Cater T.; Griffin A.; Fernandez B.; Lee M.K.; King M.-C.;
Hum. Mol. Genet. 10:2509-2514(2001)
Cited for: VARIANT DFNA6 THR-716; VARIANTS ARG-107; ILE-333; HIS-611 AND MET-871;
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.