Retina International's Scientific Newsletter

	Retina International's Scientific Newsletter
	Mutation Database Mutations of the OA1 Gene

Recent update from: 07.07.2002

Phenotype	Mutation	Basechange	Nucleotide	Exon	Restriction Site	Classification & Remarks	Mutation Database	OMIM	Reference
OA1	Group II	Fine reticular distribution Heavy staining of the nuclear membrane Protein accumulation in ER May affect correct folding Prevent proper glycosylation							(3)
OA1	Group I	Wild type glycosylation Cytoplasmic vesicular distribution concentration in the perinuclear area spreading towards periphery Co-localization with lysosomal markers							(3)
	Sequence	The sequence data are adjusted to a sequence given in a WORD file which can be downloaded here. Nucleotides are counted from the translation start site as used in most of the recent publications of OA1 mutations.				Some mutations have been named according to Bassi et al. (2) . Their sequence assumes a start codon 20 AA before the actual one given by Schiaffino et al. (9) .
OA1	Deletion Exon 1		0	1		Microdeletion	goto HGMD		(10)
OA1	Deletion Exon 1	4800bp del	0	1		Microdeletion	goto HGMD		(1)
OA1	Deletion Exon 1 - 8		0	1		Microdeletion	goto HGMD		(1)
OA1	Deletion Exon 2 - 8		0	2		Microdeletion			(1)
	Mutation map		0	0			Map
OA1	Arg 5 Cys	CGC - TGC	0013	1		Missense Group II Defective glycosylation Reduced yield ER retention	goto HGMD		(3) (1)
OA1	Gly 35 Asp	GGC - GAC	0104	1		Missense GroupII Defective glycosylation Reduced yield ER retention	goto HGMD	300500-0008	(9) (3) (1)
OA1	Leu 39 Cys	CTC - CGC	0116	1		Missense	goto HGMD		(5) (7)
OA1	151del7	CCC GGC CGC CGG - CCC ___ ___ _GG	0151	1		Microdeletion Previously reported as 211del7bp	goto HGMD		(1)
OA1	165del29bp	GCG GGC CCC GGG TCC CCC GCG ACG TCC CCG CCG - G__ ___ ___ ___ ___ ___ ___ ___ ___ ___ CCG	0165	1		Missense			(5) (8)
OA1	175insC	GGG TCC CCC GCG - GGG TCC CCC CGC G	0175	1		Microdeletion Previously reported as 240insC	goto HGMD		(1)
OA1	175delT	GGG TCC - GGG _CC	0175	1		Microdeletion Previously reported as 235delT	goto HGMD		(1)
OA1	215del17bp	CTG CGC GCT GCC GCT GCC TGC GAC - CTG C__ ___ ___ ___ ___ ___ GAC	0215	1		Deletion Previously reported as 275del17bp	goto HGMD	300500-0002	(9) (10) (1)
OA1	Asp 78 Asn	GAC - AAC	0232	1		Missense Group II Defective glycosylation Reduced yield ER retention No IR in human melanocytes	goto HGMD		(3) (1)
OA1	Asp 78 Val	GAC - GTC	0233	1		Missense	goto HGMD		(5) (7)
OA1	Gly 84 Arg	GGT - CGT	0250	2	-BstNI	Missense	goto HGMD		(10)
OA1	Deletion Exon 2	900bp del	0250	IVS1		Microdeletion	goto HGMD		(9) (1)
OA1	Deletion IVS1 - IVS2	3100bp del	0250	IVS1		Microdeletion	goto HGMD		(9) (1)
OA1	Deletion Exon 2	1000bp del	0250	IVS1		Microdeletion	goto HGMD		(9) (1)
OA1	Deletion IVS1 - Exon 2	200bp del	0250	IVS1		Microdeletion			(9) (1)
OA1	Deletion Exon 2 - 8		0251	2		Microdeletion	goto HGMD		(10) (4)
OA1	Gly 84 Asp	GGT - GAT	0251	2		Splice mutation Group II Defective glycosylation Reduced yield ER retention	goto HGMD		(9) (3) (1)
OA1	Deletion Exon 2		0251	2		Microdeletion	goto HGMD		(10)
OA1	IVS1-1g-c	tagGT - tacGT	0251	IVS1	+SnaBI	Splice mutation	goto HGMD		(10)
OA1	310delG	TCG GAT - TCG _AT	0310	2					(5) (7)
OA1	Cys 116 Ser	TGC - TCC	0346	2		Missense Group II Defective glycosylation Reduced yield ER retention	goto HGMD		(3) (1)
OA1	Cys 116 Arg	TGC - CGC	0346	2	+BstUI	Missense	goto HGMD		(10)
OA1	Gly 118 Glu	GGG - GAG	0353	2		Missense Group II Defective glycosylation Reduced yield ER retention	goto HGMD		(10) (3) (1)
OA1	Ala 120 Ala	GCG gtg - GCA gtg	0360	2		Splice mutation	goto HGMD		(5) (7)
OA1	IVS2+5g-c	gagtc - gactc	0360	IVS2		Splice mutation	goto HGMD		(9) (1)
Polymorphism	IVS2+13c/g	cccct - ccgct	0360	IVS2					(7)
OA1	Deletion Exon 3	1172bp del	0361	3		Microdeletion	goto HGMD		(1)
OA1	Gln 124 Arg	CAG - CGG	0371	2		Missense Group I Full glycosylation Lysosomal Wild type yield	goto HGMD		(3) (1)
OA1	Trp 133 Arg	TGG - AGG	0397	3		Missense	goto HGMD		(5) (7)
OA1	Trp 133 Arg	TGG - CGG	0397	3	+HpaII, + MspI	Missense Group II Defective glycosylation Reduced yield ER retention	goto HGMD	300500-0003	(10) (3)
OA1	402delG	CTG TTT - CT_ TTT	0402	3		Deletion Previously reported as 462delG	goto HGMD		(10)
OA1	Ala 138 Val	GCA - GTA	0413	3	-MwoI	Missense Group I Full glycosylation Lysosomal Wild type yield	goto HGMD		(10) (3)
OA1	445insAGATCGG	TCG GCA GGA - TCG GAG ATC GGC AGG A -	0445	3	+Sau3AI, +MboI, +DpnI, +DpnII	Insertion Previously reported 505ins7bp	goto HGMD		(9) (1)
OA1	Ser 152 Asn	AGC - AAC	0455	3	-DdeI	Splice mutation Group I Full glycosylation Lysosomal Wild type yield	goto HGMD	300500-0004	(10) (3)
OA1	IVS3+1g-c	AG gta - AG cta	0455	IVS 3		Microdeletion	goto HGMD		(1)
OA1	Deletion IVS3 - IVS8		0455	IVS3		Microdeletion	goto HGMD		(9) (1)
OA1	Deletion Exon 4 - 5		0456	4		Microdeletion	goto HGMD		(1)
OA1	Deletion Exon 4		0456	4		Microdeletion	goto HGMD		(10)
OA1	Ala 173 Asp	GCC - GAC	0518	4	-NlaIV, -Fmu4HI, +HgaI, +AhaII, +BsmAI	Missense Group II Defective glycosylation Reduced yield ER retention	goto HGMD		(9) (3) (1)
OA1	676delG	AAA GGA - AAA _GA	0676	6		Microdeletion Previously reported as 737delG	goto HGMD		(1)
OA1	Gly 229 Val	GGC - GTC	0686	6		Missense Group I Full glycosylation Lysosomal Wild type yield	goto HGMD		(3) (1)
OA1	Thr 232 Lys	ACG - AAG	0695	6		Missense Group II Full glycosylation Lysosomal Wild type yield	goto HGMD	300500-0005	(10) (3)
OA1	Glu 233 Lys	GAG - AAG	0697	6		Missense			(5) (7)
OA1	Glu 235 Lys	GAG - AAG	0705	6		Missense Group I Full glycosylation Lysosomal Wild type yield	goto HGMD		(10) (3)
OA1	Ile 244 Val	ATC - GTC	0730	6		Missense Group I Full glycosylation Lysosomal Wild type yield Has been reported as I244K	goto HGMD		(1) (3)
OA1	Arg 245 ter	CGA - TGA	0735	6	+BglII	Nonsense	goto HGMD		(10) (1)
OA1	754del14bp	CTG GTT TTA ATT ATT TG gtaac - CTG ___ ___ ___ ___ __ gtaac	0754	6	-Tsp509I	Deletion Previously reported as 816del14bp			(6)
OA1	Ile 261 Asn	ATC - AAC	0779	6		Missense Group II Defective glycosylation Reduced yield ER retention	goto HGMD		(3) (1)
OA1	Glu 271 Gly	GAG - GGG	0812	7		Missense Group I Full glycosylation Lysosomal Wild type yield	goto HGMD		(3) (1)
OA1	IVS7+1g-a	ATG gta - ATG cta	0855	IVS 7		Microdeletion Previously reported as 945+1g-a	goto HGMD		(1)
OA1	868delACC	AAG ACC ACA - AAG ___ ACA	0868	7		Deletion Previously reported as Thr 290 del Defective glycosylation Reduced yield ER retention	goto HGMD		(9) (3) (1)
OA1	Trp 292 Gly	TGG - GGG	0874	7	-NlaIII	Missense Group II Defective glycosylation Reduced yield ER retention	goto HGMD		(9) (3) (1)
OA1	Trp 292 Cys	TGG - TGT	0876	7		Microdeletion	goto HGMD		(1)
OA1	Trp 292 ter	TGG - TGA	0876	7		Microdeletion	goto HGMD		(1)
OA1	932insCG	TAC GGC - TAC CGG GC	0932	8	-BceFI, +Fnu4HI, +BstUI	Insertion Previously reported as 992insCG	goto HGMD	300500-0001	(9) (1)
Polymorphism	1409c/t		1409	3'UTR					(7)

References

Bassi,M.T., Bergen,A.A., Bitoun,P., Charles,S.J., Clementi,M., Gosselin,R., Hurst,J., Lewis,R.A., Lorenz,B., Meitinger,T., Messiaen,L., Ramesar,R.S., Ballabio,A., and Schiaffino,M.V. Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America. 2001; Hum.Genet. 108: 51-54.
Link to PubMed
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Bassi,M.T., Schiaffino,M.V., Renieri,A., De Nigris,F., Galli,L., Bruttini,M., Gebbia,M., Bergen,A.A.B., Lewis,R.A., and Ballabio,A. Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. 1995; Nat.Genet. 10: 13-19.
Link to PubMed
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d'Addio,M., Pizzigoni,A., Bassi,M.T., Baschirotto,C., Valetti,C., Incerti,B., Clementi,M., De Luca,M., Ballabio,A., and Schiaffino,M.V. Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1. 2000; Hum.Mol.Genet. 9: 3011-3018.
Link to PubMed
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Lam,B.L., Fingert,J.H., Shutt,B.C., Singleton,E.M., Merin,L.M., Brown,H.H., Sheffield,V.C., and Stone,E.M. Clinical and molecular characterization of a family affected with X-linked ocular albinism (OA1). 1997; Ophthalmic Genet. 18: 175-184.
Link to PubMed
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Oetting,W.S. New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene. 2002; Hum.Mutat. 19: 85-92.
Link to PubMed
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Preising,M.N., op de Laak,J.P., Sendtner,R., Funck,S., and Lorenz,B. Elucidating The Molecular Genetic Defect In A Family With X- Linked Congenital Nystagmus Associated With Macular Hypoplasia. 2000; Invest.Ophthalm.Vis.Sci. 41: S884
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Rosenberg,T. and Schwartz,M. X-linked ocular albinism: prevalence and mutations--a national study. 1998; Eur.J.Hum.Genet. 6: 570-577.
Link to PubMed
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Rudolph,G., Meindl,A., Bechmann,M., Schworm,H.D., Achatz,H., Boergen,K.P., Kampik,A., Berninger,T., and Meitinger,T. X-linked ocular albinism (Nettleship-Falls): a novel 29-bp deletion in exon 1. Carrier detection by ophthalmic examination and DNA analysis. 2001; Graefes Arch.Clin.Exp.Ophthalmol. 239: 167-172.
Link to PubMed
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Schiaffino,M.V., Bassi,M.T., Galli,L., Renieri,A., Bruttini,M., Denigris,F., Bergen,A.A.B., Charles,S.J., Yates,J.R.W., Meindl,A., Lewis,R.A., King,R.A., Ballabio,A., De Nigris,F., Yates,J.R., and et al. Analysis of the OA1 gene reveals mutations in only one third of patients with X-linked ocular albinism. 1995; Hum.Mol.Genet. 4: 2319-2325.
Link to PubMed
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Schnur,R.E., Gao,M., Wick,P.A., Keller,M., Benke,P.J., Edwards,M.J., Grix,A.W., Hockey,A., Jung,J.H., Kidd,K.K., Kistenmacher,M., Levin,A.V., Lewis,R.A., Musarella,M.A., Nowakowski,R.W., Orlow,S.J., Pagon,R.S., Pillers,D.A., Punnett,H.H., Quinn,G.E., Tezcan,K., Wagstaff,J., and Weleber,R.G. OA1 mutations and deletions in X-linked ocular albinism. 1998; Am.J.Hum.Genet. 62: 800-809.
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