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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q92838: Variant p.Cys60Arg

Ectodysplasin-A
Gene: EDA
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Variant information Variant position: help 60
Type of variant: help LP/P [Disclaimer]
Residue change: help From Cysteine (C) to Arginine (R) at position 60 (C60R, p.Cys60Arg).
Physico-chemical properties: help Change from medium size and polar (C) to large size and basic (R)
BLOSUM score: help -3
Variant description: help In XHED.


Sequence information Variant position: help 60
Protein sequence length: help 391
Location on the sequence: help CLLFLGFFGLSLALHLLTLC C YLELRSELRRERGAESRLGG
Residue conservation: help 
Human                         CLLFLGFFGLSLALHLLTLCCYLELRSELRRERGAESRLGG

Mouse                         CRLFLGFFGLSLALHLLTLCCYLELRSELRRERGTESRLGG

Bovine                        CRLFLGFFGLSLALHLLTLCCYLELRSELRRERGAESRFSG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 391 Ectodysplasin-A, membrane form
Transmembrane 42 – 62 Helical; Signal-anchor for type II membrane protein



Literature citations
Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia.
Vincent M.-C.; Biancalana V.; Ginisty D.; Mandel J.-L.; Calvas P.;
Eur. J. Hum. Genet. 9:355-363(2001)
Cited for: VARIANTS XHED ARG-60; TYR-252; VAL-269; SER-302 AND MET-378;
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.