SWISSVAR

1 protein found in SwissVar (9 variants)

with gene/protein name Q99758

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)
Q99758 ABCA3_HUMAN p.Asn140His
p.Leu290Met
p.Pro766Ser
p.Glu801Asp
p.His1069Gln





Q99758 ABCA3_HUMAN pulmonary surfactant metabolism dysfunction 3 p.Leu101Pro
p.Asn568Asp
p.Leu1553Pro
p.Gln1591Pro