. Author manuscript; available in PMC: 2010 Dec 1.

Published in final edited form as: Hum Mutat. 2009 Dec;30(12):1611–1619. doi: 10.1002/humu.21120

Table 3.

Repartition of location and occurrence of the HGD variants

	VARIANT^a,^b			Number of times detected^c (#)	Frequency (%)	#/% per exon
	#	Nucleotide modification	Protein effect	Number of times detected^c (#)	Frequency (%)	#/% per exon
Ex1	1	c.8A>C	p.E3A	1	0.64	4/2.5
	2	c.11T>C	p.L4S	2	1.27
	3	c.11T>A	p.L4X	1	0.64
Ex2	4	c.16-1G>A	Exon skipping	2	1.27	2/1.3
	5	c.32_33delGGinsATT	p.G11DfsX2	ND	0
	6	c.74T>C	p.L25P	ND	0
Ex3	7	c.125A>C	p.E42A	6	3.82	17/10.8
	8	c.140C>T	pS47L	ND	0
	9	c.157C>T	p.R53W	ND	0
	10	c.171G>C	p.K57N	ND	0
	11	c.174delA	p.S59AfsX52	11	7.01
	12	c.?^d	p.S59X	ND	0
Ex4	13	c.177-2G>A^e	Exon skipping	ND	0	7/4.5
	14	c.178T>G	p.W60G	2	1.27
	15	c.182T>C	p.L61P	2	1.27
	16	c.185A>G	p.Y62C	1	0.64
	17	c.217T>C	p.F73L	1	0.64
	18	c.274C>A	p.P92T	1	0.64
Ex5	19	c.289T>C	p.W97R	2	1.27	9/5.7
	20	c.289T>G	p.W97G	ND	0
	21	c.342+1G>T	Exon skipping	6	3.82
	22	c.342+1G>A	Exon skipping	1	0.64
Ex6	23	c.357dupG	p.C120VfsX9	ND	0	24/15.3
	24	c.359G>T	p.C120F	10	6.37
	25	c.360T>G	p.C120W	2	1.27
	26	c.365C>T	p.A122V	3	1.91
	27	c.365C>A	p.A122D	ND	0
	28	c.367G>A	p.G123R	2	1.27
	29	c.376_377delAA	p.K126VfsX2	2	1.27
	30	c.407T>A	p.F136Y	ND	0
	31	c.410T>C	p.L137P	3	1.91
	32	c.429G>?^d	p.E143D	ND	0
	33	c.413_434+35del57	Exon skipping	2	1.27
	34	c.433A>T	p.R145X	ND	0
Ex7	35	c.447T>A	p.N149K	1	0.64	5/3.2
	36	c.457dupG	p.D153GfsX26	3	1.91
	37	c.458A>G	p.D153G	ND	0
	38	c.468+2T>C	Exon skipping	1	0.64
	39	c.468+5G>A	Exon skipping	ND	0
Ex8	40	c.473C>T	p.P158L	1	0.64	23/14.7
	41	c.473C>G	p.P158R	ND	0
	42	c.477G>?^d	p.Q159H	ND	0
	43	c.481G>A	p.G161R	10	6.37
	44	c.502G>A	p.E168K	5	3.18
	45	c.502G>T	p.E168X	1	0.64
	46	c.504G>C	p.E168D	4	2.55
	47	c.513G>?^d	p.K171N	ND	0
	48	c.534G>?^d	p.E178D	ND	0
	49	c.541G>T	p.V181F	ND	0
	50	c.549G>T	p.Q183R	1	0.64
	51	c.549+1G>A	Exon skipping	1	0.64
Ex9	52	c.550-2A>C	Exon skipping	ND	0	2/1.3
	53	c.559C>G	p.R187G	1	0.64
	54	c.566G>T	p.S189I	ND	0
	55	c.588delC	p.R197GfsX32	ND	0
	56	c.593G>A	p.G198D	ND	0
	57	c.647T>C	p.I216T	ND	0
	58	c.649G>T	p.G217W	1	0.64
Ex10	59	c.650-56G>A	Exon skipping	ND	0	5/3.2
	60	c.650-17G>A	Exon skipping	ND	0
	61	c.674G>T	p.R225L	1	0.64
	62	c.674G>A	p.R225H	ND	0
	63	c.680T>C	p.F227S	ND	0
	64	c.688C>T	p.P230S	2	1.27
	65	c.688C>A	p.P230T	ND	0
	66	c.743A>G	p.K248R	ND	0
	67	c.773A>C	p.Q258P	2	1.27
Ex11	68	c.806A>G	p.H269R	1	0.64	3/1.9
	69	c.808G>A	p.G270R	2	1.27
	70	c.873C>A	p.D291E	ND	0
	71	c.875A>G	p.H292R	ND	0
Ex12	72	c.899T>G	p.V300G	4	2.55	7/4.5
	73	c.914C>T	p.S305F	1	0.64
	74	c.961C>T	p.R321X	ND	0
	75	c.962G>A	p.R321P	1	0.64
	76	c.964T>C	p.W322R	ND	0
	77	c.990G>T	p.R330S	ND	0
	78	c.1006+2T>A	Exon skipping	1	0.64
Ex13	79	c.1007-2A>T	Exon skipping	2	1.27	46/29.3
	80	c.1016delT	p.M339RfsX30	ND	0
	81	c.1017_1019delGAGinsTA	p.M339IfsX30	5	3.18
	82	c.1076C>T	p.P359L	1	0.64
	83	c.1078G>C	p.G360R	8	5.1
	84	c.1085G>A	p.G362E	1	0.64
	85	c.1102A>G	p.M368V	26	16.56
	86	c.1111dupC	p.H371PfsX4	2	1.27
	87	c.1112A>G	p.H371R	ND	0
	88	c.1118C>T	p.P373L	1	0.64
	89	c.1188+1G>T	Exon skipping	ND	0
Ex14	90	c.1201G>C	p.E401Q	1	0.64	3/1.9
Ex14	91	c.1336T>C	p.X446RextX24	2	1.27	3/1.9
Total				157	100	157/100

DNA variant numbering system is based on cDNA (NM_000187.2), with +1 corresponding to the A of the ATG. The initiation codon is codon 1

Novel variant

ND: Not detected in our cohort

Exact nucleotide change was not indicated and not reconstructable

Published nucleotide change is inconsistent with gene sequence