Analysis of EIF4G1 in ethnic Chinese

BMC Neurology

Table 1 EIF4G1 gene variants in 29 probands of LOPD families

Exonic/intronic variants		Accession number	Nucleotide change^a	Amino acid change	Frequency of variant in LOPD families (%)
1	Intron 2	rs73187631	IVS2-182 a > t		7.41
2	Intron 3	novel	IVS3 -44 a > g		1.85
3	Intron 4	novel	IVS4 + 115 g > a		3.70
4	Exon 7	rs13319149	c.481A > G	T161A	100
5	Intron 9	rs9846954	IVS9 + 93 a > t		25.93
6	Intron 9	novel	IVS9 + 75 indel^b		7.41
7	Intron 9	rs4912537	IVS9-100 c > t		14.81
8	Exon 10	rs2178403	c.1294A > G	M432V	55.56
9	Intron 15	1KG 3 184041398	IVS15 + 17 c > t		1.85
10	Intron 18	1KG 3 184043002	IVS18 + 100 g > t		1.85
11	Exon 27	rs2230571	c.4005C > T	H1335H	18.52

^a Human EIF4G1 cDNA sequence (RefSeq Accession number NM_198241.2) was used as the reference sequence.
^b indel : acttgaac deletion; tgggtaccagagaa insertion. (i.e. acttgaac > ggtaccagagaa).

ISSN: 1471-2377