TABLE 3

GABRA6 variants reported in genetic studies

Nucleotide mutation data are taken from dbSNP database (Sherry et al., 2001). Where the mutation resulted in an alteration of the protein sequence, the change is listed under AA consequence. The numbering of amino acids includes the signal peptide [as suggested in The Universal Protein Resource Knowledgebase (UniProtKB)] (Consortium, 2019). The listed publications are separated according to the alternative names used.

Rs NumberMutationConsequence TypeAA ConsequenceReferencesOriginal and Alternative Namesa
rs373363000C>TCSVArg46TrpDibbens et al. (2009)
Hernandez et al. (2011)
α6R46W
rs3219151T>Cb3′UTR variant/Loh et al. (1999)
Sander et al. (1999)
Rosmond et al. (2002)
Radel et al. (2005)
Ooteman et al. (2009)
Prasad et al. (2014)c
1519T>C
Park et al. (2006)1519
Han et al. (2008)T+1519C
Kumari et al. (2011)1512T>C
Uhart et al. (2004)
Arias et al. (2012)
Lynch et al. (2015)
T1521C
Yamada et al. (2003)c.1497C>T
Gong et al. (2013)rs3219151(C>T GABRA6)
Inoue et al. (2015)
Gonda et al. (2017)
Sahni et al. (2019)
rs3219151
rs3811995C>T5′UTR variant/Trucco et al. (2016)rs3811995
rs34907804C>TCSVPro404SerdIwata et al. (1999)
Schuckit et al. (1999)
Hoffman et al. (2002)
Sen et al. (2004)
Hu et al. (2005)
Radel et al. (2005)
Lucht et al. (2006)
Pro385Serd
rs3811993C>TCSVThr187MetAment et al. (2015)rs3811993
rs13184586C>A,GCSVAla335AlaRadel et al. (2005)1031G>C
• AA, amino acid; CSV, coding sequence variant.

• aNucleotide or amino-acid numbers vary between the listed references. In some cases, the numbering of the mutated nucleotide/amino acid is mapped to a known cDNA/amino-acid sequence. This sequence can vary from the entire genomic sequence because of various reasons (i.e., differential splicing, alternative transcription start sites), producing a discrepancy in numbering of the same mutation between different publications (Antonarakis, 1998).

• bThe T- and C-variants are comparably abundant. Depending on the population investigated in the individual studies, the more abundant variant is considered wild-type and the less abundant is considered mutated, resulting in either T>C or C>T.

• cThe publication uses both 1519T>C and rs3219151 as identifiers

• dThe difference in amino-acid numbering accounts for the signal peptide inclusion or exclusion.