Table 1.

TBX5 mutations detected in individuals affected by Holt–Oram syndrome

Family	Designation*	Nucleotide change		Class of Mutation	Ref.
		Mutation	Residue no.
A	Gly80Arg	G → A	238	Missense	See text
B	Arg237Gln	G → A	710	Missense	10
IIg	Arg237Gln	G → A	710	Missense
V	Arg237Trp	C → T	709	Missense	See text
E	ΔGlu243FSter	G deletion	727	Frameshift; truncated at codon 263	See text
F	Glu69ter	G → T	205	Nonsense; truncated at codon 69	10
IIa	t(5;12)(q15;q24)			Intron 1A disruption; translocation	See text
IIb	Ser196ter	C → A	587	Nonsense; truncated at codon 196	See text; 11
IId	ΔAsp140FSter	13-bp deletion	420–432	Frameshift; truncated at codon 145	See text
IIj	Int2ASC−2A	C−2 → A in Intron 2 acceptor site		Intron 2 splice acceptor site mutation; truncation	See text
II1	Int2ASG+1C	G+1 → C in intron 2 acceptor site		Intron 2 splice acceptor site mutation; truncation	See text
IIq	InsMet83FSter	G → AA	246	Frameshift; truncated at codon 94	See text

^*The location of mutations in the TBX5 gene is indicated in Fig. 1. Amino acid residues are numbered as described (10). IIj and II1 are splice acceptor site (AS) mutations; the nucleotides are numbered as described (10).