SWISSVAR
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1 protein found in SwissVar (29 variants)

with gene/protein name Q16586

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)
Q16586 SGCA_HUMAN muscular dystrophy, limb-girdle, autosomal recessive 3 p.Pro30Leu
p.Leu31Pro
p.Arg34Cys
p.Arg34His
p.Tyr62His
p.Gly68Glu
p.Arg74Trp
p.Leu76Phe
p.Arg77Cys
p.Arg81Cys
p.Leu89Pro
p.Gly91Arg
p.Ala93Val
p.Asp97Gly
p.Arg98His
p.Arg98Cys
p.Ile103Thr
p.Ile124Thr
p.Glu137Gly
p.Glu137Lys
p.Leu158Phe
p.Leu173Pro
p.Val175Ala
p.Val196Ile
p.Pro205His
p.Pro228Gln
p.Val242Ala
p.Val247Met
p.Arg284Cys