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. Author manuscript; available in PMC: 2013 Jul 1.
Published in final edited form as: Clin Genet. 2011 May 25;82(1):56–63. doi: 10.1111/j.1399-0004.2011.01695.x

Table 2.

TMPRSS3 variants identified in Pakistani families with significant or suggestive LOD scores

Family N Affected
with DNA		 N Unaffected
with DNA		 Max. Multipoint
LOD Score a 		Exon Variant
4065 7 3 5.71 4 c.310G>A (p.Glu104Lys)b
4117 10 13 9.16 12 c.1219T>C (p.Cys407Arg) c
4126 3 3 3.44 12 c.1219T>C (p.Cys407Arg) c
4159 6 5 2.53 4 c.310G>T (p.Glu104Stop)b
4279 5 2 2.41 8 c.767C>T (p.Ala256Val)b
4297A 4 3 1.76 12 c.1219T>C (p.Cys407Arg) c
4342 4 2 3.01 12 c.1273T>C (p.Cys425Arg)b
4391 6 3 2.99 4 c.208delC (p.His70ThrfsX19)d
4445 5 7 4.77 12 c.1219T>C (p.Cys407Arg) c
4489 7 7 5.79 12 c.1219T>C (p.Cys407Arg) c
a

The maximum multipoint LOD scores were observed at markers within the TMPRSS3 region

b

Novel TMPRSS3 variants (in bold type)

c

The p.Cys407Arg variant was first reported by Ben-Yosef et al. (9)

d

This variant was originally reported as 207delC (6)