Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3.
Lee
Y J
YJ
Park
D
D
Kim
S Y
SY
Park
W J
WJ
D017668:Age of Onset; D000595:Amino Acid Sequence; D002648:Child; D003638:Deafness / Q000151:congenital / Q000201:enzymology* / Q000209:etiology / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D006868:Hydrolysis; D007231:Infant, Newborn; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D008969:Molecular Sequence Data; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics* / Q000378:metabolism; D011110:Polymorphism, Genetic / Q000235:genetics*; D012697:Serine Endopeptidases / Q000235:genetics* / Q000378:metabolism
D008565:Membrane Proteins; D009363:Neoplasm Proteins; D012697:Serine Endopeptidases; C409042:TMPRSS3 protein, human