UniProtKB/Swiss-Prot O76024: Variant p.Glu737Lys

Wolframin
Gene: WFS1
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Variant information Variant position:

737 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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:

From Glutamate (E) to Lysine (K) at position 737 (E737K, p.Glu737Lys). 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:

Change from medium size and acidic (E) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

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
Polymorphism:

Arg-456-His, Arg-611-His and Ile-720-Val polymorphisms are in tight linkage disequilibrium with one another and associated with type 1 diabetes in Japanese. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs147834269 [ dbSNP | Ensembl ]

Sequence information Variant position:

737 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:

ESAINMLPFFIGDWMRCLYG E AYPACSPGNTSTAEEELCRL 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                         ESAI-NMLPFFIGDWMRCLYGEAYPA---CSPGNTSTAEEELCRL

Mouse                         ESAI-NMLPFFLGDWMRCLYGEAYPS---CSSGNTSTAEEE

Drosophila                    EDTIANYLPVWLGRMLRCLHGENISQHFKCDPKLDAQCEEW

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
Chain	1 – 890	Wolframin
Topological domain	653 – 869	Lumenal
Glycosylation	746 – 746	N-linked (GlcNAc...) asparagine

Literature citations
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; Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees.
Gomez-Zaera M.; Strom T.M.; Rodriguez B.; Estivill X.; Meitinger T.; Nunes V.;
Mol. Genet. Metab. 72:72-81(2001)
Cited for: VARIANTS WFS1 VAL-58; THR-126; PHE-350 DEL; PHE-354 DEL; LEU-504; ARG-780 AND CYS-818; VARIANTS ARG-674 AND LYS-737; Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.
Baek J.I.; Oh S.K.; Kim D.B.; Choi S.Y.; Kim U.K.; Lee K.Y.; Lee S.H.;
Orphanet J. Rare Dis. 7:60-60(2012)
Cited for: VARIANT LYS-737;

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.