OCTN2 Database Display Page


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All rows from OCTN2 database displayed (86 total)

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Nucleotide Change Protein Change Transport Activity Expression References Comments
5'UTR Polymorphism c.-207G>C Peltekova et al. 2004
5'UTR Uncertain c.-185A>C 33 Calderon et al., unpublished
5'UTR Uncertain c.-149G>A 33 Calderon et al., unpublished
5'UTR Deletion c.-91_22del Nezu et al. 1999
5'UTR Uncertain c.-78C>T 33 Calderon et al., unpublished
5'UTR Uncertain c.-77G>A 33 Calderon et al., unpublished
5'UTR Polymorphism c.-38A>C Calderon et al., unpublished
Exon 1 Missense c.3G>T p.M1I <5 Dobrowolski et al. 2005
Exon 1 Insertion c.4_5insC p.R2PfsX136 Nezu et al. 1999
Exon 1 Nonsense c.12C>G p.Y4X <1 Wang et al. 2001
Exon 1-8 Deletion c.33_1427del p.G12_L477del 2 Lamhonwah & Tein 1998
Exon 1 Missense c.43G>T p.G15W 3 Calderon et al., unpublished
Exon 1 Missense c.51C>G p.F17L 14 18 Calderon et al., unpublished 
Exon 1 Missense c.56G>C p.R19P <5 4 Wang et al. 2001
Exon 1 Deletion c.67_69delTTC p.F23del 2 Lamhonwah et al. 2002
Exon 1 Missense c.83G>T p.S28I <12 Rahbeeni et al. 2002
Exon 1 Missense c.95A>G p.N32S 21 0.4 Lamhonwah et al. 2002
Exon 1 Missense c.136C>G p.P46S <5 <5 Schimmenti et al. 2007
Exon 1 Missense c.137C>T p.P46L 7 Calderon et al., unpublished
Exon 1 Polymorphism c.207G>C p.L69L Gazouli et al. 2005
Exon 1 Deletion c.232delC p.H79TfsX51 <1 Amat di San Filippo et al. 2006
Exon 1 Missense c.248G>T p.R83L 0 <1 Makhseed et al. 2004
Exon 1 Insertion c.254_264dup
11GGCTCGCCACC
p.I89GfsX45 <5 Wang et al. 2001
Exon 1 Silent c.285C>T p.L95L Tang et al. 2002 
Exon 1 Silent c.291C>T p.L97L Tang et al. 1999
IVS1 Uncertain c.393+17G>A 50 Calderon et al., unpublished
Exon 2 Nonsense c.396G>A p.W132X <5 Tang et al. 1999
Exon 2 Missense c.424G>T p.A142S 5 45 Amat di San Filippo et al. 2006
Exon 2 Missense c.430C>T p.L144F 50 Calderon et al., unpublished
Exon 2 Silent c.453G>A p.V151V 7.7 Calderon et al., unpublished
Exon 2 Deletion c.458_459delTG p.V153AfsX41 <5 Dobrowolski et al. 2005
Exon 3 Missense c.505C>T p.R169W <5 <1 Wang et al. 2000 (2)
Exon 3 Missense c.506G>A p.R169Q <5 Burwinkel et al. 1999
Exon 3 Missense c.535A>T p.M179L 92 Koizumi et al. 1999
Exon 3 Missense c.632A>G p.Y211C <10 Vaz et al. 1999
Exon 3 Missense c.641C>T p.A214V <10 Calderon et al., unpublished
Exon 3 Insertion c.652_653ins
TATGGCCATCAGGTTGGAG
p.G218VfsX68 2 Lamhonwah & Tein 1998
IVS3 Splice Site c.652+1G>A 2 Lamhonwah et al. 2002
IVS3 variant c.652+6A>G
IVS3 Polymorphism c.652+77A>G Calderon et al., unpublished
IVS3 Splice Site c.653-2A>C 8 Calderon et al., unpublished
Exon 4 Deletion c.653_824del p.T219SfsX20 2 Lamhonwah & Tein 1998
Exon 4 Missense c.695C>T p.T232M 5 2 Calderon et al., unpublished
Exon 4 Missense c.725G>T p.G242V <5 <1 Wang et al. 2000 (2)
Exon 4 Nonsense c.760C>T p.R254X <1 Tang et al. 2002
Exon 4 Nonsense c.768G>A p.W256X none Amat di San Filippo et al. 2006
Exon 4 Deletion c.806delT p.L269HfsX27 2 Cederbaum et al. 2002
Exon 4 Silent c.807G>A p.L269L Tang et al. 2002 
IVS4 Polymorphism c.824+13C>T Tang et al. 2002
Exon 5 Nonsense c.825G>A p.W275X 5 Dobrowolski et al. 2005
Exon 5 Missense c.839C>T p.S280F <1 <1 Amat di San Filippo et al. 2006
Exon 5 Deletion c.839delC p.R282NfsX14 1 Lamhonwah et al. 2002
Exon 5 Nonsense c.844C>T p.R282X <1 Wang et al. 1999
Exon 5 Missense c.845G>A p.R282Q <10 11 Amat di San Filippo et al. 2006
Exon 5 Missense c.847T>C p.W283R <1 Mayatepek et al. 2000
Exon 5 Missense c.847T>A p.W283R <10 <5 Amat di San Filippo et al. 2006
Exon 5 Missense c.849G>T p.W283C 2 Koizumi et al. 1999
Exon 5 Nonsense c.865C>T p.R289X <5 Dobrowolski et al. 2005
Exon 5 Missense c.902C>A p.A301D <5 4 Wang et al. 2000 (2)
Exon 6 Deletion c.1009delA p.T337RfsX12 16-20 Lamhonwah et al. 2002
Exon 6 Missense c.1051T>C p.W351R <5 <1 Wang et al. 2000 (2)
Exon 7 Nonsense c.1161T>G p.Y387X Tang et al. 2002
Exon 7 Deletion c.1181_1183delTGC p.L394del 7 Calderon et al., unpublished
Exon 7 Missense c.1193C>T p.P398L <1 <1 Amat di San Filippo et al. 2006
Exon 7 Missense c.1195C>T p.R399W 36 7 Calderon et al., unpublished
Exon 7 Missense c.1196G>A p.R399Q <1 <5 Wang et al. 2001
Exon 7 Insertion c.1202_1203insA p.Y401X <5 Wang et al. 1999
IVS7 Deletion c.1267del+3_+23 5 Dobrowolski et al. 2005
IVS7 Uncertain c.1268-34A>G Calderon et al., unpublished 
Exon 8 Deletion c.1302delG p.G434AfsX24 <5 Wang et al. 1999
Exon 8 Missense c.1319C>T p.T440M 2.8 <1 Lamhonwah et al. 2002
Exon 8 Missense c.1336G>T p.V446F <1 Mayatepek et al. 2000
Exon 8 Missense c.1340A>G p.Y447C <15 0 Rahbeeni et al. 2002
Exon 8 Missense c.1342G>T p.V448L <1 Calderon et al., unpublished
Exon 8 Missense c.1345T>G p.Y449D 50 12 Amat di San Filippo et al. 2004
Exon 8 Missense c.1354G>A p.E452K <5 <5 Wang et al. 2000 (1)
Exon 8 Indel c.1392_1409
delinsCA
p.V465TfsX29 <1 Calderon et al., unpublished
Exon 8 Missense c.1400C>G p.S467C <8 11 (HEK293) Koizumi et al. 1999
Exon 8 Missense c.1403C>G p.T468R <6 <1 Lamhonwah et al. 2002
Exon 8 Missense c.1409C>T p.S470F 7.1 Lamhonwah et al. 2002
Exon 8 Missense c.1412G>A p.R471H <10 <2 Spiekerkoetter et al. 2003
Exon 8 Missense c.1433C>T p.P478L 5 <1 Tang et al. 1999
IVS8 Splice Site c.1451-1G>A <10 Nezu et al. 1999
Exon 9 Missense c.1463G>A p.R488H 5 47 Amat di San Filippo et al. 2006
Exon 9 Deletion c.1556dupACAC p.I521HX3 <5 Schimmenti et al. 2007
IVS9 Uncertain c.1587-38A>C Calderon et al., unpublished 


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