. Author manuscript; available in PMC: 2014 Jan 1.

Published in final edited form as: Am J Med Genet A. 2012 Dec 14;161(1):108–113. doi: 10.1002/ajmg.a.35696

Table II.

Summary of the EFTUD2 mutations in the three patients

	Patient 1	Patient 2	Patient 3
EFTUD2 mutation	E794K	Splice-3	Q401E
Genomic position	17:42930740	17:42961093	17:42941130
Nucleotide substitution	c.2637 G>A	c.504 -2G>T	c.1458 C>G
Amino acid substitution	p.Glu794Lys	-----	p.Gln401Glu
GERP	5.15	5.23	5.92
Exome variant server frequency	0/1537	0/1537	0/1537

GERP: Genomic Evolutionary Rate Profiling.

The mutations are highly conserved as indicated by GERP scores and were not found in a control set of 1,537 human exomes from the NHLBI Exome Sequencing Project