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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q92838: Variant p.His252Tyr

Ectodysplasin-A
Gene: EDA
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Variant information Variant position: help 252
Type of variant: help LP/P [Disclaimer]
Residue change: help From Histidine (H) to Tyrosine (Y) at position 252 (H252Y, p.His252Tyr).
Physico-chemical properties: help Change from medium size and polar (H) to large size and aromatic (Y)
BLOSUM score: help 2
Variant description: help In XHED.


Sequence information Variant position: help 252
Protein sequence length: help 391
Location on the sequence: help QGPSGAADKAGTRENQPAVV H LQGQGSAIQVKNDLSGGVLN
Residue conservation: help
Human                         QGPSGAADKAGTRENQPAVVHLQGQGSAIQVKNDLSGGVLN

Mouse                         QGPSGAADKTGTRENQPAVVHLQGQGSAIQVKNDLSGGVLN

Bovine                        QGPSGAADKAGTRENQPAVVHLQGQGSAIQVKNDLSGGVLN

Sequence annotation in neighborhood: help
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.
Beta strand 249 – 254



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.