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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UNE0: Variant p.Arg420Gln

Tumor necrosis factor receptor superfamily member EDAR
Gene: EDAR
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Variant information Variant position: help 420 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 Glutamine (Q) at position 420 (R420Q, p.Arg420Gln). 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 (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 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 ECTD10A and ECTD10B; abolishes NF-kappa-B activation and reduces JNK activation. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 420 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 448 The length of the canonical sequence.
Location on the sequence: help RISTAGYSIPELLTKLVQIE R LDAVESLCADILEWAGVVPP 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                         RISTAGYSIPELLTKLVQIERLDAVESLCADILEWAGVVPP

Mouse                         RISTAGYSIPELLTKLVQIERLDAVESLCADILEWAGVVPP
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 27 – 448 Tumor necrosis factor receptor superfamily member EDAR
Topological domain 209 – 448 Cytoplasmic
Domain 358 – 431 Death



Literature citations
Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia.
Monreal A.W.; Ferguson B.M.; Headon D.J.; Street S.L.; Overbeek P.A.; Zonana J.;
Nat. Genet. 22:366-369(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1); VARIANTS ECTD10B ARG-87 AND HIS-89; VARIANT ECTD10A GLN-420; The ectodermal dysplasia receptor activates the nuclear factor-kappaB, JNK, and cell death pathways and binds to ectodysplasin A.
Kumar A.; Eby M.T.; Sinha S.; Jasmin A.; Chaudhary P.M.;
J. Biol. Chem. 276:2668-2677(2001)
Cited for: CHARACTERIZATION OF VARIANT GLN-420; MUTAGENESIS OF GLU-379; CHARACTERIZATION; INTERACTION WITH TRAF1 AND TRAF3; Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia.
Chassaing N.; Bourthoumieu S.; Cossee M.; Calvas P.; Vincent M.-C.;
Hum. Mutat. 27:255-259(2006)
Cited for: VARIANTS ECTD10B TYR-47; HIS-89; ALA-110; ARG-148; PHE-377; MET-403; PRO-413; THR-418; GLN-420 AND CYS-434; Mutation screening of the ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.
van der Hout A.H.; Oudesluijs G.G.; Venema A.; Verheij J.B.G.M.; Mol B.G.J.; Rump P.; Brunner H.G.; Vos Y.J.; van Essen A.J.;
Eur. J. Hum. Genet. 16:673-679(2008)
Cited for: VARIANTS ECTD10B HIS-89 AND ALA-110; VARIANT ECTD10A GLN-420; 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: VARIANTS ECTD10B HIS-89; GLN-358; GLN-396 INS; MET-403; PHE-408 AND GLN-420; Eight mutations of three genes (EDA, EDAR, and WNT10A) identified in seven hypohidrotic ectodermal dysplasia patients.
Zeng B.; Xiao X.; Li S.; Lu H.; Lu J.; Zhu L.; Yu D.; Zhao W.;
Genes (Basel) 7:0-0(2016)
Cited for: VARIANT ECTD10B GLN-420; VARIANT LEU-370;
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.