Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O76024: Variant p.Arg859Gln

Wolframin
Gene: WFS1
Feedback?
Variant information Variant position: help 859 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Arginine (R) to Glutamine (Q) at position 859 (R859Q, p.Arg859Gln). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In DFNA6. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 859 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 890 The length of the canonical sequence.
Location on the sequence: help VFELKAISCLNCMAQLSPTR R HVKIEHDWRSTVHGAVKFAF 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         VFELKAISCLNC------MAQLSPTRRHVKIEHDWRSTVHGAVKFAF

Mouse                         VFELKAISCLNC------MTQLSPARRHVKIEQDWRSTVHG

Drosophila                    QVKLKTIECVECRSRDLGTASIERVVAASPMDARLQDLMRG
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 890 Wolframin
Topological domain 653 – 869 Lumenal



Literature citations
Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.
Hildebrand M.S.; Sorensen J.L.; Jensen M.; Kimberling W.J.; Smith R.J.;
Am. J. Med. Genet. A 146:2258-2265(2008)
Cited for: VARIANT DFNA6 GLN-859; VARIANTS ILE-333 AND HIS-611;
Disclaimer: 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.