OCTN2 Database Display Page
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- Transport Activity - Carnitine transport activity in patient cultured fibroblasts (% of normal).
- Expression - Carnitine transport activity in chinese hamster ovary cells (CHO) expressing mutant OCTN2 (% of wild type).
All rows from OCTN2 database displayed (86 total)
 Location  |
Mutation Type
| 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C | 33 | Calderon et al., unpublished | |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A | 33 | Calderon et al., unpublished | |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T | 33 | Calderon et al., unpublished | |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A | 33 | Calderon et al., unpublished | |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C | Calderon et al., unpublished | |
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| 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T | p.G15W | 3 | Calderon et al., unpublished | |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G | p.F17L | 14 | 18 | Calderon et al., unpublished | |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T | p.P46L | 7 | Calderon et al., unpublished | |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 |