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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9GZT5: Variant p.Phe228Ile

Protein Wnt-10a
Gene: WNT10A
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Variant information Variant position: help 228 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 Phenylalanine (F) to Isoleucine (I) at position 228 (F228I, p.Phe228Ile). 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 aromatic (F) to medium size and hydrophobic (I) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help In OODD and STHAG4; also found in patients with an unclassified form of ectodermal dysplasia. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 228 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 417 The length of the canonical sequence.
Location on the sequence: help SWEWGGCSPDMGFGERFSKD F LDSREPHRDIHARMRLHNNR 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                         SWEWGGCSPDMGFGERFSKDFLDSREPHRDIHARMRLHNNR

Mouse                         SWEWGGCSPDVGFGERFSKDFLDSREPHRDIHARMRLHNNR

Zebrafish                     SWEWGGCSPNVEYGERFSKDFLDSRETYRDIHSRMRLHNNR
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 36 – 417 Protein Wnt-10a



Literature citations
WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.
Bohring A.; Stamm T.; Spaich C.; Haase C.; Spree K.; Hehr U.; Hoffmann M.; Ledig S.; Sel S.; Wieacker P.; Ropke A.;
Am. J. Hum. Genet. 85:97-105(2009)
Cited for: VARIANTS OODD GLN-128 AND ILE-228; INVOLVEMENT IN SSPS; Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.
Cluzeau C.; Hadj-Rabia S.; Jambou M.; Mansour S.; Guigue P.; Masmoudi S.; Bal E.; Chassaing N.; Vincent M.C.; Viot G.; Clauss F.; Maniere M.C.; Toupenay S.; Le Merrer M.; Lyonnet S.; Cormier-Daire V.; Amiel J.; Faivre L.; de Prost Y.; Munnich A.; Bonnefont J.P.; Bodemer C.; Smahi A.;
Hum. Mutat. 32:70-72(2011)
Cited for: INVOLVEMENT IN STHAG4; VARIANTS STHAG4 TYR-143; MET-145 AND ILE-228; VARIANT CYS-360; WNT10A and isolated hypodontia.
Kantaputra P.; Sripathomsawat W.;
Am. J. Med. Genet. A 155:1119-1122(2011)
Cited for: VARIANTS STHAG4 ASN-217 AND ILE-228; 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; Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.
Du R.; Dinckan N.; Song X.; Coban-Akdemir Z.; Jhangiani S.N.; Guven Y.; Aktoren O.; Kayserili H.; Petty L.E.; Muzny D.M.; Below J.E.; Boerwinkle E.; Wu N.; Gibbs R.A.; Posey J.E.; Lupski J.R.; Letra A.; Uyguner Z.O.;
Hum. Genet. 137:689-703(2018)
Cited for: VARIANT STHAG4 ILE-228;
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.