Table 1.

Missense/nonsense mutations in human apoA-I

Codon	Change	AA change	Codon	Phenotype
1	CAG-TAG	Gln-Term	−2	Low-HDL, CHD
3	TGG-TAG	Trp-Term	8	Low-HDL
5	CGA-CTA	Arg-Leu	10	Low-HDL
7	GGC-CGC	Gly-Arg	26	Amyloidosis
9	AGA-ACA	Arg-Thr	27	Low-HDL?
11	CAG-TAG	Gln-Term	32	Low-HDL
13	TGG-CGG	Trp-Arg	50	Amyloidosis
15	CTG-CGG	Leu-Arg	60	Amyloidosis
17	CTC-CCC	Leu-Pro	64	Amyloidosis
19	CTG-CCG	Leu-Pro	75	Amyloidosis
21	CAG-TAG	Gln-Term	84	Low-HDL
23	CTG-CCG	Leu-Pro	90	Amyloidosis
25	GAG-TAG	Glu-Term	136	Low-HDL
27	CTG-CGC	Leu-Arg	141	Low-HDL, CHD
29	CTG-CGG	Leu-Arg	144	Low-HDL
31	CGC-CAC	Arg-Cys	151	Low-HDL
33	GCC-CCC	Arg-Pro	153	Low-HDL, CHD
35	GTG-GAG	Val-Glu	156	Low HDL
37	CTG-CGC	Leu-Arg	159	Low-HDL
39	CTG-CCG	Leu-Pro	159	Low-HDL, CHD
41	CGC-CTC	Arg-Leu	160	Low-HDL
43	CCC-CGC	Pro-Arg	165	Low-HDL
45	CTG-CCG	Leu-Pro	170	Amyloidosis
47	CGC-TGC	Arg-Cys	173	Low-HDL
49	CGC-CCC	Arg-Pro	173	Amyloidosis
51	TTG-TCG	Leu -Ser	174	Amyloidosis
53	GCC-CCC	Ala-Pro	175	Amyloidosis
55	CTT-CAT	Leu-His	178	Amyloidosis
57	CTT-CCT	Leu-Pro	178	Low-HDL, CHD

This table does not include the apoA-I mutation described in [3], nor the three new apoA-I variants reported as being linked to amyloidosis as found in [9]. Also this does not represent a complete list since there are currently approximately 50 known apoA-I variants.