SWISSVAR
Home  |  Contact

1 protein found in SwissVar (62 variants)

with gene/protein name P54098

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)
P54098 DPOG1_HUMAN progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 1 p.Ser511Asn
p.Tyr831Cys
p.Gly923Asp
p.Arg943His
p.Arg953Cys
p.Tyr955Cys
p.Ala957Ser
p.Ser1176Leu
p.Asp1186His









P54098 DPOG1_HUMAN progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive, 1 p.Arg3Pro
p.Arg227Trp
p.Thr251Ile
p.Gly268Ala
p.Leu304Arg
p.Gln308His
p.Arg309Leu
p.Trp312Arg
p.Gly380Asp
p.Gly431Val
p.Ala467Thr
p.Asn468Asp
p.Arg562Gln
p.Arg574Trp
p.Arg579Trp
p.Pro587Leu
p.Met603Leu
p.Pro648Arg
p.Gly737Arg
p.Arg807Pro
p.Gly848Ser
p.Arg853Trp
p.Ala889Thr
p.His932Tyr
p.Arg1047Gln
p.Gly1076Val
p.Arg1096Cys
p.Ser1104Cys
p.Ala1105Thr
p.Val1106Ile
p.Arg1146Cys
p.Asp1184Asn
































P54098 DPOG1_HUMAN sensory ataxic neuropathy dysarthria and ophthalmoparesis p.Ala467Thr
p.Gln497His
p.Gly517Val
p.Arg627Gln
p.Arg627Trp
p.Trp748Ser
p.Arg807Cys
p.His932Tyr
p.Gly1051Arg









P54098 DPOG1_HUMAN mitochondrial dna depletion syndrome 4a p.Arg232Gly
p.Leu244Pro
p.Thr251Ile
p.Ala467Thr
p.Pro587Leu
p.Trp748Ser
p.Ala767Asp
p.Tyr831Cys
p.Gly848Ser
p.Gln879His
p.Thr885Ser
p.Thr914Pro
p.Ala957Pro
p.Arg1096Cys
p.Arg1096His
p.His1110Tyr
p.His1134Arg
p.Glu1136Lys
p.Lys1191Asn



















P54098 DPOG1_HUMAN mitochondrial dna depletion syndrome 4b p.Arg227Trp
p.Thr251Ile
p.Pro587Leu
p.Gly848Ser
p.Asn864Ser





P54098 DPOG1_HUMAN leigh syndrome p.Arg232His
p.Gly848Ser


P54098 DPOG1_HUMAN spinocerebellar ataxia with epilepsy p.Ala467Thr
p.Gln497His
p.Trp748Ser