SWISSVAR
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1 protein found in SwissVar (27 variants)

with gene/protein name Q13501

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)
Q13501 SQSTM_HUMAN paget disease of bone 3 p.Pro387Leu
p.Pro392Leu
p.Ser399Pro
p.Met404Val
p.Met404Thr
p.Gly411Ser
p.Gly425Arg







Q13501 SQSTM_HUMAN mutant htt that may protect cells from apoptosis, possibly by recruiting autophagosomal components to the polyubiquitinated protein aggregates
Q13501 SQSTM_HUMAN frontotemporal dementia and/or amyotrophic lateral sclerosis 3 p.Ala16Val
p.Ala33Val
p.Asp80Glu
p.Val90Met
p.Arg107Trp
p.Asp129Asn
p.Val153Ile
p.Arg212Cys
p.Gly219Val
p.Ser226Pro
p.Pro228Leu
p.Pro232Thr
p.Asp258Asn
p.Ser318Pro
p.Arg321Cys
p.Asp329Gly
p.Pro348Leu
p.Ser370Pro
p.Ala381Val
p.Pro387Leu
p.Pro392Leu
p.Gly411Ser
p.Gly425Arg
p.Thr430Pro
























Q13501 SQSTM_HUMAN neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
Q13501 SQSTM_HUMAN myopathy, distal, with rimmed vacuoles