UniProtKB/Swiss-Prot O00744: Variant p.Cys256Tyr

Protein Wnt-10b
Gene: WNT10B
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Variant information Variant position:

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

US 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 Cysteine (C) to Tyrosine (Y) at position 256 (C256Y, p.Cys256Tyr). 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 polar (C) to large size and aromatic (Y) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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:

Associated with obesity; abrogates the ability of WNT10B to activate canonical Wnt signaling and blocks adipogenesis. Any additional useful information about the variant.

Sequence information Variant position:

256 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

389 The length of the canonical sequence.
Location on the sequence:

RQVVTENLKRKCKCHGTSGS C QFKTCWRAAPEFRAVGAALR 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                         RQVVTENLKRKCKCHGTSGSCQFKTCWRAAPEFRAVGAALR

Mouse                         RQVVTENLKRKCKCHGTSGSCQFKTCWRAAPEFRAIGAALR

Zebrafish                     RQVVTDNMRRKCKCHGTSGSCQFKTCWYVSPEFRLVGSLLR

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	29 – 389	Protein Wnt-10b
Lipidation	253 – 253	O-palmitoleoyl serine; by PORCN
Disulfide bond	247 – 261
Disulfide bond	249 – 256
Alternative sequence	192 – 389	Missing. In isoform 2.

Literature citations
WNT10B mutations in human obesity.
Christodoulides C.; Scarda A.; Granzotto M.; Milan G.; Dalla Nora E.; Keogh J.; De Pergola G.; Stirling H.; Pannacciulli N.; Sethi J.K.; Federspil G.; Vidal-Puig A.; Farooqi I.S.; O'Rahilly S.; Vettor R.;
Diabetologia 49:678-684(2006)
Cited for: VARIANTS TYR-77; TYR-256; THR-285 AND SER-301; ASSOCIATION OF VARIANT TYR-256 WITH OBESITY; FUNCTION;

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.