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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q92838: Variant p.Arg289Cys

Ectodysplasin-A
Gene: EDA
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Variant information Variant position: help 289 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 Arginine (R) to Cysteine (C) at position 289 (R289C, p.Arg289Cys). 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 basic (R) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 STHAGX1; decreased interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 289 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 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         GVLNDWSRITMNPKVFKLHPRSGELEVLVDGTYFIYSQVEV

Mouse                         GVLNDWSRITMNPKVFKLHPRSGELEVLVDGTYFIYSQVEV

Bovine                        GVLNDWSRITMNPKVFKLHPRSGELEVLVDGTYFIYSQVEV
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
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
EDA gene mutations underlie non-syndromic oligodontia.
Song S.; Han D.; Qu H.; Gong Y.; Wu H.; Zhang X.; Zhong N.; Feng H.;
J. Dent. Res. 88:126-131(2009)
Cited for: VARIANTS STHAGX1 GLU-259; CYS-289 AND HIS-334; Functional study of ectodysplasin-a mutations causing non-syndromic tooth agenesis.
Shen W.; Wang Y.; Liu Y.; Liu H.; Zhao H.; Zhang G.; Snead M.L.; Han D.; Feng H.;
PLoS ONE 11:E0154884-E0154884(2016)
Cited for: CHARACTERIZATION OF VARIANTS XHED LEU-252; CYS-343 AND ARG-374; CHARACTERIZATION OF VARIANTS STHAGX1 GLU-259; CYS-289; HIS-334; CYS-343 AND ARG-374; 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.