SWISSVAR
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1 protein found in SwissVar (18 variants)

with gene/protein name P35579

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)
P35579 MYH9_HUMAN macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss p.Asn93Lys
p.Ala95Thr
p.Ser96Leu
p.Lys373Asn
p.Arg702His
p.Arg702Cys
p.Lys910Gln
p.Ser1114Pro
p.Thr1155Ile
p.Arg1165Cys
p.Arg1165Leu
p.Arg1400Trp
p.Asp1424Asn
p.Asp1424Tyr
p.Asp1424His
p.Ile1816Val
p.Glu1841Lys

















P35579 MYH9_HUMAN deafness, autosomal dominant, 17 p.Arg705His

P35579 MYH9_HUMAN mutations in the four most frequently affected residues of myh9 were evaluated
P35579 MYH9_HUMAN non-diabetic end stage renal disease