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Table 1 EIF4G1 gene variants in 29 probands of LOPD families

From: Analysis of EIF4G1 in ethnic Chinese

Exonic/intronic variants Accession number Nucleotide changea 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 indelb   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
  1. a Human EIF4G1 cDNA sequence (RefSeq Accession number NM_198241.2) was used as the reference sequence.
  2. b indel : acttgaac deletion; tgggtaccagagaa insertion. (i.e. acttgaac > ggtaccagagaa).