Mutation Study of Malaysian Patients with Ornithine Transcarbamylase Deficiency: Clinical, Molecular, and Bioinformatics Analyses of Two Novel Missense Mutations of the OTC Gene

Table 2

List of mutations found in 16 patients.

Patient; (Sex)	Exon/ Intron	Nucleotide change	Amino acid change	Reference
1; (male)	Ex-5	c.513G>T	p.(Gln171His)	Novel
2; (female)	Ex-6	c.595A>C	p.(Asn199His)	Novel
3; (male)	Ex-2	c.133C>G	p.(Leu45Val)	[17]
4; (female)	Ex-5	c.422G>A	p.(Arg141Gln)	[18]
5; (male)	Ex-4	c.299 G>A	p.Gly100Asp)	[19]
6; (male)	Ex-3	c.286T>C	p.(Ser96Pro)	dbSNP database
7; (male)	Ex-5	c.422G>A	p.(Arg141Gln)	[18]
8; (female)	Ex-8	c.813-814delAGinsC	p.(Glu271Aspfs288)	[20]
9; (male)	Ex-6	c.595A>G	p.(Asn199Asp)	[2]
10; (male)	Ex-6	c.583G>A	p.(Gly195Arg)	[21]
11; (male)	Ex-2	c.148 T>G	p.(Gly50)	[22]
12; (male)	Ex-10	c.245_246delTAinsAG	p.(Leu82)	[4]
13; (male)	Ex-9	c.1005G>A	p.(Met335Ile)	[23]
14; (male)	Ex-10	c.638T>C	p.(Met213Thr)	[3]
15; (female)	Ex-10	c.638T>C	p.(Met213Thr)	[3]
16; (female)	Ex-10	c.638T>C	p.(Met213Thr)	[3]