UniProtKB/Swiss-Prot Q9GZT5: Variant p.Gly213Ser

Protein Wnt-10a
Gene: WNT10A
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Variant information Variant position:

213 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 Glycine (G) to Serine (S) at position 213 (G213S, p.Gly213Ser). 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 glycine (G) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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:

In STHAG4 and OODD; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs147680216 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

PEHPALPTASPGLQDSWEWG G CSPDMGFGERFSKDFLDSRE 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                         PEHPALPTASPGLQDSWEWGGCSPDMGFGERFSKDFLDSRE

Mouse                         PEHPAILPASPGLQDSWEWGGCSPDVGFGERFSKDFLDSRE

Zebrafish                     MEH--FPAEALGPQDSWEWGGCSPNVEYGERFSKDFLDSRE

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	36 – 417	Protein Wnt-10a
Disulfide bond	159 – 214

Literature citations
Eight mutations of three genes (EDA, EDAR, and WNT10A) identified in seven hypohidrotic ectodermal dysplasia patients.
Zeng B.; Xiao X.; Li S.; Lu H.; Lu J.; Zhu L.; Yu D.; Zhao W.;
Genes (Basel) 7:0-0(2016)
Cited for: INVOLVEMENT IN STHAG4; VARIANT STHAG4 SER-213; Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.
Plaisancie J.; Bailleul-Forestier I.; Gaston V.; Vaysse F.; Lacombe D.; Holder-Espinasse M.; Abramowicz M.; Coubes C.; Plessis G.; Faivre L.; Demeer B.; Vincent-Delorme C.; Dollfus H.; Sigaudy S.; Guillen-Navarro E.; Verloes A.; Jonveaux P.; Martin-Coignard D.; Colin E.; Bieth E.; Calvas P.; Chassaing N.;
Am. J. Med. Genet. A 161A:671-678(2013)
Cited for: VARIANTS STHAG4 SER-126; SER-213; SER-266; ILE-357 AND CYS-379; FUNCTION; WNT10A mutations account for 1/4 of population-based isolated oligodontia and show phenotypic correlations.
Arzoo P.S.; Klar J.; Bergendal B.; Norderyd J.; Dahl N.;
Am. J. Med. Genet. A 164A:353-359(2014)
Cited for: VARIANTS STHAG4 TRP-70; 107-CYS--LYS-417 DEL; CYS-113; SER-213; CYS-223 AND ILE-228; WNT10A mutations also associated with agenesis of the maxillary permanent canines, a separate entity.
Kantaputra P.; Kaewgahya M.; Kantaputra W.;
Am. J. Med. Genet. A 164A:360-363(2014)
Cited for: VARIANTS STHAG4 CYS-171 AND SER-213; Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations.
Kantaputra P.; Kaewgahya M.; Jotikasthira D.; Kantaputra W.;
Am. J. Med. Genet. A 164A:1041-1048(2014)
Cited for: VARIANTS OODD SER-213 AND CYS-356; Role of WNT10A in failure of tooth development in humans and zebrafish.
Yuan Q.; Zhao M.; Tandon B.; Maili L.; Liu X.; Zhang A.; Baugh E.H.; Tran T.; Silva R.M.; Hecht J.T.; Swindell E.C.; Wagner D.S.; Letra A.;
Mol. Genet. Genomic Med. 5:730-741(2017)
Cited for: VARIANTS STHAG4 SER-213 AND ILE-357; 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.