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UniProtKB/Swiss-Prot Q9GZT5: Variant p.Phe228Ile

Protein Wnt-10a
Gene: WNT10A
Variant information

Variant position:  228
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  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:  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:  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

Involvement in disease:  Odonto-onycho-dermal dysplasia (OODD) [MIM:257980]: A rare autosomal recessive ectodermal dysplasia characterized by dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma and hyperhidrosis of palms and soles, and hyperkeratosis of the skin. {ECO:0000269|PubMed:17847007, ECO:0000269|PubMed:19471313, ECO:0000269|PubMed:19559398, ECO:0000269|PubMed:24458874, ECO:0000269|PubMed:28589954}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Involvement in disease:  Tooth agenesis, selective, 4 (STHAG4) [MIM:150400]: A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). In STHAG4, the upper lateral incisors are absent or peg-shaped. Some STHAG4 patients manifest mild features of ectodermal dysplasia, including sparse hair, sparse eyebrows, short eyelashes, abnormalities of the nails, sweating anomalies and dry skin. STHAG4 inheritance is autosomal dominant or autosomal recessive. {ECO:0000269|PubMed:20979233, ECO:0000269|PubMed:21484994, ECO:0000269|PubMed:22581971, ECO:0000269|PubMed:23401279, ECO:0000269|PubMed:24311251, ECO:0000269|PubMed:24449199, ECO:0000269|PubMed:27657131, ECO:0000269|PubMed:29178643}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In OODD and STHAG4; also found in patients with an unclassified form of ectodermal dysplasia.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  228
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:   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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         SWEWGGCSPDMGFGERFSKDFLDSREPHRDIHARMRLHNNR

Mouse                         SWEWGGCSPDVGFGERFSKDFLDSREPHRDIHARMRLHNNR

Zebrafish                     SWEWGGCSPNVEYGERFSKDFLDSRETYRDIHSRMRLHNNR

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.

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;

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.