. 2012 Jun 7;21(18):3993–4006. doi: 10.1093/hmg/dds222

Table 1.

List of VUS evaluated in this study

Variant	Protein change	Exon	DNA sequence		Evolutionary conservation^c	No. of BIC entries
Variant	Protein change	Exon	Variant^a	BIC^b	Evolutionary conservation^c	No. of BIC entries
G25R	p.Gly25Arg	3	c.73G>A	301G>A	Fully conserved	1
W31R	p.Try31Arg	3	c.91T>C	319T>C	Fully conserved	1
W31C	p.Try31Cys	3	c.93G>T	321G>T	Fully conserved	1
F2406L	p.Phe2406Leu	14	c.7218T>G	7446T>G	Highly conserved, except in Sp	1
S2695L	p.Ser2695Leu	18	c.8084C>T	8312C>T	Highly conserved, except in Fr, Sp	2
I2944F	p.Ile2944Phe	22	c.8830A>T	9058A>T	Highly conserved, except in Md, Tn, Fr, Sp	115
E3002K	p.Glu3002Lys	23	c.9004G>A	9232G>A	Fully conserved	9
N3124I	p.Asp3124Ile	25	c.9371A>T	9599A>T	Fully conserved	14

Md, Monodelphis domesticus; grey, short-tailed opossum; Tn, Tetraodon nigroviridis, Pufferfish (green spotted); Fr, Fugu rubripes, Pufferfish (fugu); Sp, Strongylocentrotus purpuratus, sea urchin.

^aNucleotide numbering reflects cDNA numbering with +1 corresponding to the A of the ATG translation initiation codon in the reference sequence (NM_000059.3). The initiation codon is codon 1.

^bFor BIC nomenclature, +228 corresponds to the ATG translation initiation codon in the reference sequence.

^cFully conserved indicates conservation from sea urchin through humans.