SWISSVAR
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1 protein found in SwissVar (34 variants)

with gene/protein name Q3T906

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)
Q3T906 GNPTA_HUMAN mucolipidosis type ii p.Asp76Gly
p.Trp81Leu
p.Val182Asp
p.Gln205Pro
p.Arg334Leu
p.Ile348Leu
p.Phe374Leu
p.Ser385Leu
p.Lys732Asn
p.Lys928Arg
p.Ala955Val
p.Arg986Cys
p.Leu1001Pro
p.Leu1054Val
p.Lys1236Met















Q3T906 GNPTA_HUMAN mucolipidosis type iii complementation group a p.Lys4Gln
p.Ser15Tyr
p.Trp81Leu
p.Asp190Val
p.Arg334Gln
p.Phe374Leu
p.Ser399Phe
p.Ile403Thr
p.Asp407Ala
p.Cys442Tyr
p.Cys461Gly
p.Cys468Ser
p.Cys505Tyr
p.Gly575Arg
p.Arg587Pro
p.Thr644Met
p.Gln926Pro
p.His956Tyr
p.His956Arg
p.Asp1018Gly
p.Asn1153Ser





















Q3T906 GNPTA_HUMAN persistent stuttering