Table 4.

Previously published sequence variants in the TMIE gene^a

Exon	Nucleotide change	Protein change	Domain	Evolutionary conservation
Intron 1–exon 2	c.94 –2_98del AGCCCAGinsCb	Exon skipping predicted	N/A	N/A
2	c.125_126dup CGCCb	Frameshift results in truncation	N/A	N/A
3	c.250C>T	p.R84W	IC	Identical
3	c.274C>T	p.R92Wc	IC	Nonconserved

N/A Not applicable

^aTMIE sequence variants are from Naz et al. [3]. Membrane-spanning domains, evolutionary conservation, and functional effect were determined as described in Table 2

^bThese sequence variants were originally reported as IVS1-2_98del AGCCCAGinsC and 125-126insCGCC. The nomenclature has been modified in accordance with recommendations from the Human Genome Variation Society (http://www.genomic.unimelb.edu.au/mdi/)

^cThe arginine residue at position 92 belongs to a putative tyrosine kinase phosphorylation site according to the PROSITE database [14]