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UniProtKB/Swiss-Prot Q92838: Variant p.Arg289Leu

Ectodysplasin-A
Gene: EDA
Chromosomal location: Xq12-q13.1
Variant information

Variant position:  289
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 Arginine (R) to Leucine (L) at position 289 (R289L, p.Arg289Leu).
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 basic (R) to medium size and hydrophobic (L)
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

Involvement in disease:  Tooth agenesis, selective, X-linked, 1 (STHAGX1) [MIM:313500]: 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). {ECO:0000269|PubMed:16583127, ECO:0000269|PubMed:18657636, ECO:0000269|PubMed:19278982, ECO:0000269|PubMed:23603338, ECO:0000269|PubMed:23625373, ECO:0000269|PubMed:24487376, ECO:0000269|PubMed:27144394}. 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 STHAGX1.
Any additional useful information about the variant.



Sequence information

Variant position:  289
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  391
The length of the canonical sequence.

Location on the sequence:   GVLNDWSRITMNPKVFKLHP  R SGELEVLVDGTYFIYSQVEV
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                         GVLNDWSRITMNPKVFKLHPRSGELEVLVDGTYFIYSQVEV

Mouse                         GVLNDWSRITMNPKVFKLHPRSGELEVLVDGTYFIYSQVEV

Bovine                        GVLNDWSRITMNPKVFKLHPRSGELEVLVDGTYFIYSQVEV

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 1 – 391 Ectodysplasin-A, membrane form
Chain 160 – 391 Ectodysplasin-A, secreted form
Topological domain 63 – 391 Extracellular
Alternative sequence 136 – 391 Missing. In isoform 2.
Alternative sequence 143 – 391 Missing. In isoform 5.
Alternative sequence 148 – 391 Missing. In isoform 4, isoform 6 and isoform 7.
Turn 288 – 290


Literature citations

Oligodontia and curly hair occur with ectodysplasin-a mutations.
Lee K.E.; Ko J.; Shin T.J.; Hyun H.K.; Lee S.H.; Kim J.W.;
J. Dent. Res. 93:371-375(2014)
Cited for: VARIANTS STHAGX1 LEU-289 AND VAL-379;

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.