. Author manuscript; available in PMC: 2014 Oct 16.

Published in final edited form as: Neuron. 2013 Oct 16;80(2):10.1016/j.neuron.2013.08.013. doi: 10.1016/j.neuron.2013.08.013

Table 2. Mutations identified in ASNS.

Nucleotide and amino acid positions are based on the NCBI Reference sequences NM_183356.3 and NP_899199.2, respectively. See also Tables S1–S10.

Family	Genotype	ASNS modification	Nucleotide change	Ethnicity	Frequency in control in-house exomes/genomes	Frequency in ancestry-matched controls	PolyPhen-2	SIFT
A	homozygous	p.F362V	c.1084T>G	Iranian Jewish	0/261	1/80	damaging (0.95)	damaging (0.04)
B	homozygous	p.F362V	c.1084T>G	Iranian Jewish	0/261	1/80	damaging (0.95)	damaging (0.04)
C	homozygous	p.R550C	c.1648C>T	Bangladeshi	0/169	0/225	damaging (1.00)	damaging (0.01)
D	compound heterozyous	p.R550C	c.1648C>T	French Canadian	0/169	0/300	damaging (1.00)	damaging (0.01)
		p.A6E	c.17C>A		0/169	0/300	damaging (0.898)	deleterious (0.02)