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. 2014 May 6;8:57. doi: 10.3389/fnins.2014.00057

Table 1.

Summary of OX1 and OX2 orexin receptor variants: investigations in disease.

OX1 aa Corresponding aa in OX2 Location SNP (or other access code) Numbering/peyron Numbering/olafsdottir Findings References
167 Gly/Ser Ile TM4 rs144603792 652 G/A Not linked with narcolepsy Olafsdottir et al., 2001
265 Leu/Met a IC3 793 C/A Not linked with narcolepsy Peyron et al., 2000
279 Arg/Gln a IC3 rs7516785 989 G/A Not linked with narcolepsy Olafsdottir et al., 2001
280 Gly/Ala a IC3 NP_001516 (C), AF041243 (G)
281 Arg/His a IC3 rs41439244 842 G/A 995 G/A Not linked with narcolepsy Peyron et al., 2000; Olafsdottir et al., 2001
408 Ile/Val a C-terminus rs2271933 1222 G/A 1375 G/A Not linked with narcolepsy Peyron et al., 2000; Olafsdottir et al., 2001
A allele associated with 1.4-fold risk of migraine Rainero et al., 2011b
1.6-fold increased risk of major mood disorders Rainero et al., 2011a
Association with polydipsia–hyponatremia in schizophrenia possible Meerabux et al., 2005; Fukunaka et al., 2007
No allele associations in panic disorder Annerbrink et al., 2011
OX2 aa Corresponding aa in OX1 Location SNP Numbering/peyron Numbering/olafsdottir Findings References
10 Pro/Ser Pro N-terminus rs41271310 28 C/T 352 C/T Not linked with narcolepsy Peyron et al., 2000; Olafsdottir et al., 2001; Thompson et al., 2004
11 Pro/Thr a N-terminus rs41271312 31 C/A 355 C/A Not linked with narcolepsy Peyron et al., 2000; Olafsdottir et al., 2001
Tourette syndrome/ADHD/sleep disorder 1.6 and 2.7-fold shifts in EC50 for orexin-A and -B Thompson et al., 2004
193 Cys/Ser a TM4 577 T/A Not linked with narcolepsy Peyron et al., 2000
293 Ile/Val a IC3 1201 G/A Not linked with narcolepsy Olafsdottir et al., 2001
308 Ile/Val Val TM6 rs265334 922 G/A 1246 G/A Not linked with narcolepsy Peyron et al., 2000; Olafsdottir et al., 2001
Ile variant associated with panic disorder in female patients Annerbrink et al., 2011
Migraine not associated. Association with CH found in some but not in all studies Baumber et al., 2006; Schürks et al., 2006; Rainero et al., 2008
Does not affect migraine drug response Schürks et al., 2007a
401Thr/Ile a C-terminus 1202 C/T Not linked with narcolepsy Peyron et al., 2000

aa, amino acid; IC, intracellular loop; SNP, single nucleotide polymorphism; TM, transmebrane helix.

a

The corresponding amino acids can be defined with certainty only for TM regions.