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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q92838: Variant p.Tyr320Cys

Ectodysplasin-A
Gene: EDA
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Variant information Variant position: help 320 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 Tyrosine (Y) to Cysteine (C) at position 320 (Y320C, p.Tyr320Cys). 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 (Y) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In XHED; likely pathogenic; loss of function in positive regulation of canonical NF-kappaB signal transduction. Any additional useful information about the variant.


Sequence information Variant position: help 320 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 391 The length of the canonical sequence.
Location on the sequence: help TYFIYSQVEVYYINFTDFAS Y EVVVDEKPFLQCTRSIETGK 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                         TYFIYSQVEVYYINFTDFASYEVVVDEKPFLQCTRSIETGK

Mouse                         TYFIYSQVEVYYINFTDFASYEVVVDEKPFLQCTRSIETGK

Bovine                        TYFIYSQVEVYYINFTDFASYEVVVDEKPFLQCTRSIETGK
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 1 – 391 Ectodysplasin-A, membrane form
Chain 160 – 391 Ectodysplasin-A, secreted form
Topological domain 63 – 391 Extracellular
Domain 249 – 385 THD
Glycosylation 313 – 313 N-linked (GlcNAc...) asparagine
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.
Beta strand 318 – 324



Literature citations
Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A.
Schneider P.; Street S.L.; Gaide O.; Hertig S.; Tardivel A.; Tschopp J.; Runkel L.; Alevizopoulos K.; Ferguson B.M.; Zonana J.;
J. Biol. Chem. 276:18819-18827(2001)
Cited for: VARIANTS XHED CYS-153; CYS-155; CYS-156; HIS-156; ASN-158; 183-GLY--PRO-194 DEL; 185-ASN--PRO-196 DEL; GLU-189; 191-PRO--PRO-196 DEL; ARG-207; ASP-218; 218-GLY--PRO-223 DEL; ARG-291; SER-299; CYS-320; CYS-343; ARG-374; PRO-378 AND MET-378; Eight EDA mutations in Chinese patients with tooth agenesis and genotype-phenotype analysis.
Yu K.; Sheng Y.; Wang F.; Yang S.; Wan F.; Lei M.; Wu Y.;
Oral Dis. 0:0-0(2024)
Cited for: VARIANTS XHED PRO-271; ARG-291; CYS-304; CYS-320 AND SER-379; CHARACTERIZATION OF VARIANTS XHED PRO-271; ARG-291; CYS-304; CYS-320 AND SER-379; VARIANTS STHAGX1 HIS-334; MET-338 AND ARG-358; CHARACTERIZATION OF VARIANTS STHAGX1 HIS-334; MET-338 AND ARG-358;
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.