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1 protein found in SwissVar (34 variants)

with gene/protein name P46100

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
P46100 ATRX_HUMAN alpha-thalassemia mental retardation syndrome, x-linked p.Gly175Glu
p.Asn179Ser
p.Pro190Ala
p.Pro190Ser
p.Pro190Leu
p.Leu192Phe
p.Val194Ile
p.Cys200Ser
p.Gln219Pro
p.Cys220Arg
p.Trp222Ser
p.Cys243Phe
p.Arg246Cys
p.Arg246Leu
p.Gly249Asp
p.Gly249Cys
p.Val1538Gly
p.Val1552Phe
p.His1609Arg
p.Cys1614Arg
p.Thr1621Met
p.Leu1645Ser
p.Lys1650Asn
p.Pro1713Ser
p.Arg1742Lys
p.Tyr1847Cys
p.Asp2035Val
p.Tyr2084His
p.Tyr2163Cys





























P46100 ATRX_HUMAN mental retardation-hypotonic facies syndrome, x-linked, 1 p.Cys220Tyr
p.Leu409Ser
p.Ile2050Thr
p.Arg2131Gln
p.Arg2271Gly





P46100 ATRX_HUMAN alpha-thalassemia myelodysplasia syndrome