SWISSVAR
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1 protein found in SwissVar (7 variants)

with gene/protein name P20839

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)
P20839 IMDH1_HUMAN retinitis pigmentosa 10 p.Thr116Met
p.Arg224Pro
p.Asp226Asn
p.Val268Ile
p.His372Pro

1JCNB (224)
1JCNB (226)
1JCNA (268)

P20839 IMDH1_HUMAN leber congenital amaurosis 11 p.Arg105Trp
p.Asn198Lys