Premature stop codon in exon 12.
C12072407T
Q1168term | ATP8B-PB; Q989term | ATP8B-PC; Q938term | ATP8B-PD; Q759term | ATP8B-PF; Q904term | ATP8B-PG; Q989term | ATP8B-PH; Q904term | ATP8B-PI
Q1160@
The location of the mutation was reported as Q1160. This is based on an obsolete annotation (ATP8B-PA - see FB release 3.2). This maps to Q1168 in ATP8B-PB. An RNA-seq-supported splice junction change accounts for the 8aa difference in sequence between the two isoforms.
The mutant is unresponsive to 1% cVA (11-cis-vaccenyl acetate) and also lacks normal spontaneous action potentials in the absence of cVA. Approximately half of the Or67d-neurons from this line are insensitive to all concentrations of cVA.