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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q92838: Variant p.Arg156Cys

Ectodysplasin-A
Gene: EDA
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Variant information Variant position: help 156
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Cysteine (C) at position 156 (R156C, p.Arg156Cys).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (C)
BLOSUM score: help -3
Variant description: help In XHED; abolishes proteolytic processing.
Other resources: help


Sequence information Variant position: help 156
Protein sequence length: help 391
Location on the sequence: help LNFFFPDEKPYSEEESRRVR R NKRSKSNEGADGPVKNKKKG
Residue conservation: help 
Human                         LNFFFPDEKPYSEEESRRVRRNKRSKSNEGADGPVKNKKKG

Mouse                         LNFFFPDEKAYSEEESRRVRRNKRSKSGEGADGPVKNKKKG

Bovine                        VNFFIPKEKSYSEEESRRVRRNKRSKSSEGADGPVKNKKKG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 391 Ectodysplasin-A, membrane form
Topological domain 63 – 391 Extracellular
Region 146 – 245 Disordered
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.
Mutagenesis 159 – 159 R -> A. Abolishes proteolytic processing.



Literature citations
Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia.
Chen Y.; Molloy S.S.; Thomas L.; Gambee J.; Baechinger H.P.; Ferguson B.M.; Zonana J.; Thomas G.; Morris N.P.;
Proc. Natl. Acad. Sci. U.S.A. 98:7218-7223(2001)
Cited for: CHARACTERIZATION OF VARIANTS XHED CYS-153; CYS-155; CYS-156; HIS-156 AND ASN-158; MUTAGENESIS OF ARG-159; CLEAVAGE SITE; The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia.
Paeaekkoenen K.; Cambiaghi S.; Novelli G.; Ouzts L.V.; Penttinen M.; Kere J.; Srivastava A.K.;
Hum. Mutat. 17:349-349(2001)
Cited for: VARIANTS XHED CYS-156; HIS-156; CYS-255; ASP-255; GLY-274; TYR-332 AND THR-349; 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; 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 XHED CYS-155; CYS-156; HIS-156; 183-GLY--PRO-194 DEL; 184-PRO--GLY-189 DEL; 185-ASN--PRO-196 DEL; ARG-291; TYR-298; GLY-307; ASP-372 AND ILE-373;
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.