SWISSVAR
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1 protein found in SwissVar (13 variants)

with gene/protein name P24043

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)
P24043 LAMA2_HUMAN merosin-deficient congenital muscular dystrophy 1a p.Cys518Tyr
p.Cys527Tyr
p.Thr821Met
p.Cys862Arg
p.Trp1311Gly
p.Leu2564Pro
p.Gly2633Ala
p.Gly2889Arg








P24043 LAMA2_HUMAN muscular dystrophy, limb-girdle, autosomal recessive 23 p.Trp152Gly
p.Leu243Pro
p.Gly284Arg
p.Ala1496Val
p.Arg2477Ser