Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma

. 2013 May 9;7(2):66–84. doi: 10.5005/jp-journals-10008-1140

Table 3: Mutations found till date in CYP1B1 gene in PCG patients. Only mutations that manifest in the translation product have been listed

Genomic position	Base alteration	Change in protein	Mutation type	Number of cases reported
Exon I
g.3131	C>T	Noncoding region	Probably regulatory	2
Exon II
g.3834	Insertion A	Frameshift	Insertion	11
g.3860	C>T	p.Q19X	Nonsense	2
g.3876	T>G	p.L24R*	Missense	2
g.3905	Deletion 23bp	Deletion	Deletion in frame	2
g.3913	C>T	p.Q37X	Nonsense	1
g.3929	C>T	p.Q42X	Nonsense	1
g.3956	Insertion C	Frameshift	Insertion	1
g.3960	C>T	p.P52L	Missense	1
g.3964	Deletion C	Frameshift	Deletion	1
g.3972	Deletion C	Frameshift	Deletion	2
g.3976	G>A	p.W57X	Nonsense	6
g.3976	G>C	p.W57C	Missense	1
g.3979	Deletion A	Frameshift	Deletion	1
g.3985	C>G	p.I60M	Missense	1
g.3987	G>A	p.G61E	Missense	207
g.3988	Deletion A	Frameshift	Deletion	2
g.4004	Deletion 8bp	Frameshift	Deletion	1
g.4035	T>C	p.L77P	Missense	2
g.4046	T>A	p.Y81N	Missense	2
g.4048	C>A	p.Y81X	Nonsense	2
g.4052	Deletion G	Frameshift*	Deletion	2
g.4081	Deletion C	Frameshift	Deletion	2
g.4089	T>C	p.V95A	Missense	1
g.4122	C>A	p.A106D	Missense	1
g.4124	C>G	p.L107V	Missense	4
g.4133	C>T	p.Q110X	Nonsense	12
g.4148	G>C	p.A115P	Missense	2
g.4154	C>T	p.R117W	Missense	1
g.4155	G>C	p.R117P	Missense	1
g.4157	C>T	p.P118S	Missense	2
g.4168	Insertion 18bp	Frameshift	Insertion	1
g.4196	Deletion 5bp	Frameshift	Deletion	1
g.4200	T>G	p.M132R	Missense	4
g.4206	T>C	p.F134S	Missense	1
g.4236	A>C	p.Q144P	Missense	1
g.4236	A>G	p.Q144R	Missense	1
g.4238	Deletion 10bp	Frameshift	Deletion	4
g.4259/60	Deletion AT❶	Frameshift	Deletion	1
g.4280	C>T	p.Q159X	Nonsense	1
g.4292	C>T	p.R163C	Missense	1
g.4306	Insertion T	Frameshift	Insertion	2
g.4322	G>A	p.E173K	Missense	8
g.4322	G>T	p.E173X	Nonsense	1
g.4330/31	Deletion TG❶	Frameshift	Deletion	3
g.4335	T>G	p.L177R	Missense	2
g.4335	T>C	p.L177P	Missense	1
g.4339	Deletion G	Frameshift	Deletion	24
g.4340	Deletion G	Frameshift	Deletion	34
g.4342	Deletion G	Frameshift	Deletion	1
g.4373	T>C	p.F190L*	Missense	1
g.4375	C>A	p.F190L	Missense	2
g.4379	G>T	p.D192Y	Missense	1
g.4380	A>T	p.D192V	Missense	4
g.4383	C>T	p.P193L	Missense	4
g.4397	G>A	p.V198L	Missense	2
g.4410	C>A	p.A202D	Missense	1
g.4413	A>G	p.N203S	Missense	1
g.4430	T>C	p.C209R	Missense	1
g.4449	G>T	p.S215I	Missense	3
g.4490	G>A	p.E229K	Missense	29
g.4499	G>C	p.G232R	Missense	1
g.4520	A>C	p.S239R	Missense	4
g.4523	Deletion C	Frameshift	Deletion	1
g.4530	Duplication 16/	Frameshift	Duplication and deletion	1
	Deletion 6❷
g.4531	Deletion 22 bp	Frameshift	Deletion	1
g.4547	C>T	p.Q248X	Nonsense	1
g.4578	C>A	p.F261L	Missense	3
g.4589	G>T	p.E262X	Nonsense	1
g.4602	Deletion 9 bp	In frame deletion	Deletion	4
g.4611	Duplication 9 bp	Frameshift	Duplication	2
g.4633	Deletion C	Frameshift	Deletion	2
g.4635	Deletion T	Frameshift	Deletion	5
g.4640	C>G	p.H279D*	Missense	1
g.4645	C>A	p.C280X	Nonsense	3
g.4646	G>T	p.E280X	Nonsense	3
g.4650	G>A	p.S282N	Missense	1
g.4664	G>A	p.A287S	Missense	1
g.4668	Insertion C	Frameshift	Insertion	6
g.4673	Insertion C	Frameshift	Insertion	4
g.4677	A>G	p.D291G	Missense	6
g.4680/81❸	T>A/G>A	p.M292K	Missense	1
g.4761	A>G	p.N319S	Missense	1
g.4763	G>T	p.V32L	Missense	2
g.4776	Insertion AT	Frameshift	Insertion	4
g.4791	G>T	p.G329V	Missense	5
g.4791	G>A	p.G329D*	Missense	2
g.4793/94	G>T/C>T	p.A330F	Missense	1
g.4812	C>A	p.S336Y	Missense	1
g.4825	G>T	p.Q340H*	Missense	1
g.4828	G>A	p.W341X	Nonsense	1
g.4838	Deletion CTC	In frame deletion	Deletion	1
Intron-II-Exon-III junction
g.4849	Deletion Intron-II-Exon-III	Frameshift	Deletion	2
Exon-III
g.7899	Deletion 12bp	In frame deletion	Deletion	1
g.7900	C>T	p.R355X	Nonsense	2
g.7900	Deletion CG	Frameshift	Deletion	4
g.7901	Deletion 13bp	Frameshift	Deletion	30
g.7925	T>A	p.V363D	Missense	2
g.7927	G>A	p.V364M	Alternate frame	17
g.7930	G>T	p.G365W	Missense	2
g.7934	Deletion G	Frameshift	Deletion	2
g.7939	C>T	p.R368C	Missense	3
g.7940	G>A	p.R368H	Missense	87
g.7940	G>T	p.R368L	Missense	2
g.7945	Deletion C	Frameshift	Deletion	2
g.7957	G>A	p.D374N	Missense	8
g.7959	C>G	p.D374E	Missense	2
g.7970	T>A	p.L378Q	Missense	1
g.7990	C>T	p.L385F	Missense	14
g.7996	G>A	p.E387K	Missense	65
g.7999	G>A	p.A388T	Missense	3
g.8005	C>T	p.R390C	Missense	23
g.8005	C>A	p.R390S	Missense	4
g.8006	G>A	p.R390H	Missense	74
g.8033	T>G	p.I399S	Missense	1
g.8034	C>T	p.P400S	Missense	3
g.8037	Duplication 10bp	Frameshift	Duplication	39
g.8047	Duplication 10bp	Frameshift	Duplication	1
g.8104	A>T	p.N423Y	Missense	1
g.8111	Insertion G	Frameshift	Insertion	2
g.8127	C>G	p.D430E	Missense	1
g.8131	C>G	p.L432V	Missense	1
g.8139	G>A	p.W434X	Nonsense	1
g.8147	C>T	p.P437L	Missense	7
g.8162	C>G	p.P442R	Missense	1
g.8165	C>G	p.A443G	Missense	3
g.8167	C>T	p.R444X	Nonsense	1
g.8168	G>A	p.R444Q	Missense	9
g.8170	T>A	p.F445I	Missense	2
g.8171	T>G	p.F445C	Missense	1
g.8171	T>C	p.F445S	Missense	2
g.8182	Deletion G	Frameshift	Deletion	11
g.8209	Deletion '	Frameshift	Deletion/insertion	1
	5bp/insertion
	11bp❹
g.8214	Duplication 27bp	Frameshift	Duplication	3
g.8214/15	Deletion AG	Frameshift	Deletion	2
g.8234	G>A	p.G466D	Missense	2
g.8240	Duplication 27bp	Frameshift	Duplication	2
g.8242	C>T	p.R469W	Missense	53
g.8246	G>A	p.C470Y	Missense	2
g.8249	T>G	p.I471S	Missense	2
g.8297	T>C	p.L487P	Missense	2
g.8329	A>G	p.N498D	Missense	1
g.8333	A>G	p.E499G	Missense	1
g.8341	Deletion A	Frameshift	Deletion	2
g.8354	Deletion 20bp	Frameshift	Deletion	2
g.8373	Deletion 6bp	In frame deletion	Deletion	2
g.8405	G>A	p.R523K	Missense	4
Undefined
Not defined	Not defined	Not defined	Not defined	89
Total number of mutation types		147 (excluding unidentified types)	Total number of patients	542

*These mutations were first reported from our laboratory;

❶An example of double deletion; ❷Duplication and deletion in the same gene; ❸Double substitution; ❹Deletion and insertion in the same gene