Table 1

Summary of NKX2-5 mutations

Nucleotide change (NKX2–5 NM004387)	Nucleotide reference (coding region)	Amino acid change	Location	Number of positive hearts (n = 68)	Mutations compared in normal v diseased heart tissues	Mutations detected in both Down’s and non-Down’s syndrome AVSD patients	PCR-RFLP assay
Non-synonymous
196 T→C	20	7 Leu→Pro	Exon 1	1
232 A→G	56	19 Asn→Ser	Exon 1, TN domain	18
249 C→T	73	25 Arg→Cys	Exon 1	1			HhaI
309 T→C	133	45 Ser→Pro	Exon 1	1
327 T→C	151	51 Phe→Leu	Exon 1	1
382 T→C	206	69 Leu→Pro	Exon 1	1
406 C→T	230	77 Pro→Leu	Exon 1	1
516 T→A	340	114 Cys→Ser	Exon 2	5		×
516 T→C	340	114 Cys→Arg	Exon 2	22	×	×
529 A→G	353	118 Lys→Arg	Exon 2	5	×
547 A→G	371	124 Lys→Arg	Exon 2	6	×
553 A→T	377	126 Glu→Val	Exon 2	11	×	×
573 C→T	397	133 Pro→Ser	Exon 2	6	×
579 G→A	403	135 Ala→Thr	Exon 2	9	×	×	AvaI
607 T→C	431	144 Leu→Pro	Exon 2	11	×	×
709 C→T	533	178 Thr→Met	Exon 2, HD	5	×		NlaIII
723 A→G	547	183 Lys→Glu	Exon 2, HD, third helix	29	×	×	TaqI
735 C→T	559	187 Gln→Ter	Exon 2, HD, third helix	6	×		XbaI
751 A→C	575	192 Lys→Thr	Exon 2, HD, third helix	6	×		TaiI
751 A→G	575	192 Lys→Arg	Exon 2, HD, third helix	2	×		BfmI
757 A→G	581	194 Lys→Arg	Exon 2, HD, third helix	2	×		Bsgl
790 T→A	614	205 Val→Glu	Exon 2	6	×
832 C→T	656	219 Ala→Val	Exon 2, NK2-SD	10	×
852 G→A	676	226 Asp→Asn	Exon 2	2	×
918 T→C	742	248 Tyr→His	Exon 2	5	×
1011 T→C	835	279 Ser→Pro	Exon 2	3	×
1012 C→T	836	279 Ser→Phe	Exon 2	23	×	×
1018 C→T	842	281 Ala→Val	Exon 2	34	×	×	BmrI
1033 C→T	857	286 Ala→Val	Exon 2	22	×	×
1056 A→C	880	294 Asn→His	Exon 2	14	×	×
1072 A→G	896	299 Asp→Gly	Exon 2	36	×	×
1089 A→G	913	305 Ser→Gly	Exon 2	1	×
1134 G→A	958	320 Gly→Ser	Exon 2	17	×
1141 G→A	965	322 Arg→Gln	Exon 2	2	×
1149 T→C	973	Stop→Gln	Exon 2	12	×	×
dbSNPs
239 A→G	63	21 Glu	Exon 1, rs2277923	8AA: 55 AG			BpmI
1212 T→G			Exon 2, rs703752	13 GG: 53 GT