Lowe Syndrome Mutation Database

Lowe Syndrome Mutation Database

OCRL1 Mutations

Exon/Intron Number	Mutation Type	cDNA Number	Amino Acid	mRNA	Enzyme Activity	Result of Mutation	Patients	Reference
Intron 7	Splice site	IVS7-1G>A			Deficient		1
Exon 8	Deletion,frameshift	559delA	A187	Not done [1]		frameshift fsX45	1	**AddisMetal.HumMutationinBrief#710(2004)
Exon 8	Nonsense	592C>T	Q198X			Premature termination	1
Exon 8	Nonsense	631C>T	R213X		Deficient	Premature termination	1
Exon 8	Deletion,frameshift	649_650delTA	Y217			frameshift	1
Exon 9	Nonsense	689G>A	W230X			Premature termination	1	*Unpublished_Drs._B._Roa_and_M._Hegde
Exon 9	Missense	690G>T	W230C	Not done [1]		mutant protein	1	**AddisMetal.HumMutationinBrief#710(2004)
Exon 9	Other	716_717delCinsAGACTT	S239			frameshift	1
Exon 9	Missense	732G>C	W244C			missense	1	**UnpublishedDrs.B.RoaandM.Hegde
Exon 9	Missense	763T>C	Y255H			missense	1
Exon 9	Splice site	773G>C	exon 9 skipping	Not done [1]		premature stop	1	7
Exon 10	Deletion,frameshift	819delA				Premature termination after 2 residues	1	B.Roa, unpublished
Exon 10	Deletion,frameshift	823delG	V275X	Not done [1]	Deficient	premature stop	1	2
Exon 10	Nonsense	832C>T	Q278X			Premature Stop	1	2
Exon 10	Nonsense	839G>A	W280X	Not done [1]		premature stop	1	8
Exon 10	Deletion,frameshift	856-857delAG	Frame shift/ Premature stop	Not done [1]		Premature stop	1	7
Intron 10	Splice site	889-11G>A				Splicing abnormality, amino acid insertion and premature stop	2	2005, unpublisheddata, ChouY-Yetal.ActaPaediatrTaiwan46:226-229
Exon 11	Insertion,frameshift	924-925insA				Frame shift/Stop	1	6
Exon 11	Nonsense	949C>T	R317X	Not done [2]		Premature Termination	3	6, 7
Exon 11	Missense	950G>C	R317P	Not done [1]			1	8
Exon 12	Deletion,frameshift	1013_1014delAA			Deficient		1
Exon 12	Missense	1019G>A	G340E	Not done [1]			2	7, **B.RoaUnpublished
Exon 12	Deletion,in-frame	1048-1050 or 1051-1053delACC	Deletion of T350 or T351		Deficient	Mutant protein	2	2, 6
Exon 12	Missense	1064T>G	V355G	Not done [1]		Mutant protein	1	8
Exon 12	Missense	1072C>T	H358Y		Deficient	Mutant protein	1	3
Exon 12	Insertion,frameshift	1110-1111 ins T		Not done [1]		Frameshift ->premature stop	1	MariaAddis, unpublished
Exon 12	Nonsense	1111C>T	Q371X		Deficient	Premature stop	1	2
Exon 12	Nonsense	1171C>T	Q391X			Premature stop	2	5, 9
Intron 12	Splice site	1193+1 G>C				splice site mutation	1	**AddisMetal.HumMutationinBrief#710(2004)
Exon 13	Deletion,frameshift	128 del A	420S			frameshift, premature termination	1	B.Roa, unpublished
Exon 13	Missense	1211G>A	G404E		Deficient	Mutant protein	1	7
Exon 13	Missense	1213G>A	D405N			Missense	1	**B.RoaUnpublished
Exon 13	Missense	1219A>G	N407D			Mutant protein	1	7
Exon 13	Deletion,frameshift	1258delA			Deficient		1
Exon 13	Deletion,frameshift	1277delA				frame shift/premature stop	1	7
Exon 13	Missense	1301A>G	D434G		Deficient	Mutant protein	1	2
Exon 13	Deletion,frameshift	1304delA	Frameshift			Premature Stop	1	**unpublisheddata
Exon 14	Deletion,frameshift	Genomic deletion			Deficient	Frame shift/Premature stop	1	2
Exon 14	Missense	1318C>G	R440G	Present [1]	Deficient		1	**unpublisheddata
Exon 14	Missense	1336T>C	F446S	Not done [1]		Mutant protein	1	2
Exon 14	Missense	1373G>A	P458H			Missense	1	2005, **ChouY-Yetal.ActaPaediatrTaiwan46:226-229
Exon 14	Nonsense	1380T>G	Y460X	Not done [1]		Premature Stop	2	**AddisMetal.HumMutationinBrief#710(2004)
Exon 14	Deletion,in-frame	1381-1386delAAGTAT	DelKY478-479	Not done [1]		Mutant Protein	1	9
Exon 14	Splice site	1415G>A	S472N	Present [1]		S472N and Exon 14 skipping	1	7
Exon 15	Missense	1438T>G	480	Not done [1]	Deficient	W>G	1	14
Exon 15	Nonsense	1439G>A	W480X	Not done [1]		Premature stop	1	8
Exon 15	Missense	1442G>A	C481Y	Not done [1]		Mutant protein	1	7
Exon 15	Nonsense	1447C>T	R483X	Not done [2]		Premature termination	3	7, B.Roa, unpublished
Exon 15	Missense	1447C>G	R483G	Not done [2]		Mutant protein	2	6, 8
Exon 15	Missense	1448G>A	R483Q	Not done [4]		substitutioon	7	3, 4, 8, 9, B.Roa, unpublished
Exon 15	Deletion,frameshift	1466delC				Frame shift/premature stop	1	7
Exon 15	Deletion,frameshift	1467,1468 or 1469delA			Deficient	Frame shift/ premature stop	1	2
Exon 15	Missense	1472T>A	V491D	Not done [1]			1	3
Exon 15	Missense	1487A>G	Y496C	Not done [1]	Deficient	Mutant protein	1	3
Exon 15	Missense	1515C>G	S505R	Not done [1]		Mutant protein	1	5
Exon 15	Missense	1517A>G	D506G			Substitution, splice site	1	B.Roa, unpublished
Exon 15	Missense	1520A>G	H507R	Not done [1]	Deficient	Mutant protein	1	2
Exon 15	Missense	1521C>G	H507Q	Not done [1]	Deficient		1	4
Exon 15	Missense	1525 C>A	P509T			Substitution, splice site	1	B.Roa, unpublished
Exon 15	Missense	1526C>T	P509L	Not done [1]			1	9
Exon 15	Missense	1529T>A	V510D	Not done [1]		mutant protein	1	**AddisMetal.HumMutationinBrief#710(2004)
Exon 15	Missense	1547T>G	I516S		Deficient		1	11
Intron 15	Splice site	1551+1G>A		Present [2]		exon 15 skipping	2	7
Exon 16	Nonsense	1570C>T	R524X			Premature termination	1	B.Roa, unpublished
Exon 16	Deletion,frameshift	1629-1632, 1636-1639 delCCTT		Not done [1]		Frame shift	1	6
Exon 16	Insertion,frameshift	1643-44insCCTT				frameshift, premature stop	1	MariaAddis, unpublished
Exon 16	Insertion,frameshift	1643_1644insCCTT				frameshift, premature stop	1	B.Roa, unpublished
Exon 16	Insertion,in-frame	1643-1644insCCTT					3	8, **unpublisheddata
Exon 16	Insertion,frameshift	1658-1659 ins G				Frame shift/Premature Stop	1	7
Intron 16	Splice site	1663-2A>G				Exon skipping	1	**unpublisheddata
Exon 17	Insertion,frameshift	1671-1672insT				Frame shift/ Premature Stop	1	9
Exon 17	Nonsense	1672G>T				Premature stop	1	6
Exon 17	Missense	1679 T>A	V560E			Substitution, splice site	1	**AddisMetal.HumMutationinBrief#710(2004)
Exon 17	Deletion,frameshift	1686delT				Frame shift/ Premature stop	1	8
Exon 17	Insertion,frameshift	1700-1701insG				Frame shift / Premature stop	1	7
Exon 17	Deletion,in-frame	1702-1704delGAG	E568			Mutant Protein	1	7
Exon 17	Deletion,frameshift	1718 del G	573			frameshift and premature termination 159 bases downstream	1	**MadhuriHegdeunpublished
Exon 17	Deletion,frameshift	1726 or 1727delG				Frame Shift	1	6
Exon 17	Deletion,frameshift	1771-1783del 13 nt				Frame shift	1	7
Exon 17	Nonsense	1779C>G	Y596X				1	8
Intron 17	Deletion,frameshift	1829-5_1829-21 del	N610fsX16	Present [1]		alternative splice acceptor, frameshift, premature termination	1	**AddisMetal.HumMutationinBrief#710(2004)
Exon 18	Deletion,frameshift	1872-1873delCT or 1873-1874delTC or 1874-1875delCT		Not done [1]		Frame shift Stop	1	2
Exon 18	Deletion,frameshift	1876delGT	frameshift			Premature Stop	1	**unpublisheddata
Exon 18	Nonsense	1936C>T	R646X	Not done [3]		Premature termination	4	2, 7, B.Roa, unpublished
Exon 18	Nonsense	2000T>G	L667X			Premature termination	1	B.Roa, unpublished
Exon 18	Missense	2009T>C	L670P			Missense	1	B.Roa, unpublished
Exon 18	Deletion,frameshift	2020delA		Not done [1]		Frame shift/ Premature stop	1	7
Exon 18	Nonsense	2032C>T	R678X	Not done [1]		premature termination	3	3, 7, **AddisMetal.HumMutationinBrief#710(2004)
Exon 19	Insertion,frameshift	2152-2153insA		Not done [1]		Frame shift/ Premature stop	1	3
Exon 19	Nonsense	2193C->G	731	Not done [1]		Y731X	1	MariaAddis, unpublished
Exon 20	Deletion,frameshift	2214delG		Not done [1]		Frame shift/ Premature stop	1	7
Exon 20	Deletion,frameshift	2218 delC	Q740			frameshift, premature stop	1	B.Roa, unpublished
Exon 20	Nonsense	2218C>T	Q740X	Not done [1]		Premature Stop	1	7
Exon 20	Deletion,frameshift	2246delA	Q749fsX58			frameshift, premature temrination	1	**AddisMetal.HumMutationinBrief#710(2004)
Exon 20	Missense	2252T>A	I751N	Not done [1]		Mutant protein	1	7
Intron 21	Splice site	IVS21+2_6 del insA					1	B.Roa, unpublished
Exon 21	Deletion,frameshift	2307-2308, 2308-2309, or 2309-2310 delGT or TG		Not done [1]	Deficient	Frame shift /Premature stop	1	2
Exon 21	Deletion,frameshift	2307-2308, 2308-2309 or 2309-2310 delGT or TG		Not done [1]	Deficient	Frame shift / Premature stop	2	2, 3
Exon 21	Missense	2338G>C	A780P	Not done [1]		Mutant protein	1	7
Exon 21	Nonsense	2364C>G	Y788X	Not done [1]		Premature Stop	2	7, unpublished, Monier
Exon 21	Nonsense	2365G>T	E789X			Premature termination	1	B.Roa, unpublished
Exon 21	Nonsense	2377 C>T	R793X	Not done [2]		Premature termination	3	7, 8, **MadhuriHegdeunpublished
Exon 21	Nonsense	2382T>A	C794X	Not done [1]		Premature Stop	1	8
Exon 21	Nonsense	2413C>T	R805X			Premature Stop	3	Monnier, unpublished, **B.Roa
Exon 21	Nonsense	2416C>T	Q806X	Not done [1]	Deficient	Premature Stop	1	3
Intron 22	Splice site	IVS22+4A>G					1	B.Roa, unpublished
Exon 22	Other	2419-2430 del		Present [1]		exon 22 skipping	1	1
Exon 22	Insertion,frameshift	2464-2465 insC		Not done [1]		Frame shift/ Premature stop	1	8
Exon 22	Nonsense	2479C>T	R827X	Not done [2]		Premature Termination	4	1, B.Roa, unpublished
Exon 22	Nonsense	2482G>T	E828X	Not done [1]		Premature Stop	1	7
Exon 22	Insertion,frameshift	2498-2499 or 2499-2500 ins T			Deficient	Frame shift / Premature stop	1	10
Exon 22	Other	2530G->A	A844->T	Not done [1]		Substitution, splice site	1	M.Addis, unpublished
Exon 22	Missense	2530G>A	A844->T	Not done [1] Present [1]		Splice site and substitution	3	4, 7, B.Roa, unpublished
Intron 22	Splice site	2530+4A>G		Present [1]	Deficient	Exon 22 skipping	1	11
Exon 23	Deletion,frameshift	2571 or 2572 delC				Frame shift/ Premature stop	2	6, 8
Exon 23	Insertion,in-frame	2591_2592 inc C				frameshift 3 bases downstream	1	**MadhuriHegdeunpublished

Mutation Type	Exons Deleted	Patients	Reference
Deletion,frameshift	1-3	1	7
Deletion,frameshift	1-4	1	7
Other	1-23	1	12
Deletion,frameshift	5-8	1	7
Other	6-12	2	**unpublisheddata
Deletion,frameshift	8-12	1	7

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