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1 protein found in SwissVar (49 variants)

with gene/protein name P51608

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)
P51608 MECP2_HUMAN angelman syndrome
P51608 MECP2_HUMAN mental retardation, x-linked, syndromic, 13 p.Glu137Gly
p.Ala140Val
p.Arg167Trp
p.Pro225Leu
p.Lys284Glu
p.Pro322Ser
p.Pro399Leu
p.Arg453Gln








P51608 MECP2_HUMAN rett syndrome p.Glu10Gln
p.Asp97Glu
p.Asp97Tyr
p.Leu100Val
p.Leu100Arg
p.Pro101Ser
p.Pro101Arg
p.Pro101His
p.Pro101Leu
p.Pro101Thr
p.Arg106Gln
p.Arg106Trp
p.Arg111Gly
p.Tyr120Asp
p.Leu124Phe
p.Gln128Pro
p.Arg133His
p.Arg133Cys
p.Ser134Cys
p.Lys135Glu
p.Pro152Arg
p.Phe155Ser
p.Phe155Ile
p.Asp156Gly
p.Thr158Met
p.Thr158Ala
p.Gly161Val
p.Lys210Ile
p.Pro225Arg
p.Pro302Arg
p.Pro302Ala
p.Pro302His
p.Pro302Leu
p.Lys305Arg
p.Arg306His
p.Arg306Cys
p.Pro322Ala
p.Pro322Leu
p.Arg344Trp
p.Pro388Ser








































P51608 MECP2_HUMAN autism, x-linked 3
P51608 MECP2_HUMAN encephalopathy, neonatal severe p.Gly428Ser

P51608 MECP2_HUMAN mental retardation, x-linked, syndromic, lubs type