Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan

Table 1 Mutant alleles of TMPRSS3 found in this study

Family	Mutation	Domain	Amino acid substitution	First reference
Family B	IVS8+8insT	SP	Frameshift	This study
Family B	207delC	LDLRA	Frameshift	[9]
PKDF003	207delC	LDLRA	Frameshift	[9]
PKDF040	1219T>C	SP	C407R	[5]
PKDF064	581G>T	SRCR	C194F	[5]
PKDF311	207delC	LDLRA	Frameshift	[9]

SP; Serine Protease, LDLRA; Low Density Lipoprotein Receptor A, SRCR; Scavenger-Receptor Cysteine-Rich

ISSN: 1471-2350