TABLE 5.

Genetic mutations, biochemical phenotype, biochemical phenotype score, and lipid profile for patients with NPC1 disease

				Cholesterol (mg/dl)
Patient	Nucleotide/Amino Acid Change	Biochemical Phenotypea	Biochemical Phenotype Score	Total	HDL	LDL	Triglycerides (mg/dl)
1	G660S, 3573_3574insACTT	M, U	2	163	36	96	154
2	I1061T, V1165M	C/VB, U	3	122	32	69	105
3	R789G, I1061T	S, C/VB	4	204	31	154	98
4	C247Y, P401T	S, U	4	131	32	82	83
5	G673V, I1061T	U, C/VB	3	119	27	68	121
6	P887L, 3741_3744delACTC	U, U	U	165	69	76	99
7	I923V, A1151T	VB, U	U	111	39	61	61
8	P543L, E612D	U, S	4	137	27	69	210
9	V950M, N1156S	VT, M	2	133	32	91	87
10	V950M, N1156S	VT, M	2	118	30	77	63
11	S1249G, 3742_3745delCTCA,	S, U	4	112	21	67	121
12	S940L, I1061T	VB, C/VB	3	227	11	172	222
13	T1036M, I1061T	S, C/VB	4	141	21	95	127
14	T1036M, I1061T	S, C/VB	4	139	23	83	166
15	T1036M, I1061T	S, C/VB	4	158	26	92	202
16	P1007A, IVS21(-10)delTCC	M/VT, U	2	143	57	75	56
17	S230_V231del, 974_975insGA	C, U	3	146	34	90	112
18	I1061T, I1061T	C/VB, C/VB	3	131	46	46	196
19	P166S, P474L	U, C/VT	3	134	38	76	99

^aAbbreviations for the biochemical phenotype are defined as follows: U = unknown, M = moderate, VB = variable, VT = variant, C = classical, S = severe as previously described (30). The biochemical phenotype score was calculated as described in the Methods, and defined as: U = unknown, 2 = moderate, 3 = classical, 4 = severe.