Nucleotide substitution: G1849A.
Amino acid replacement: A617T.
The amino acid replacement found in the SERCAUnc-ts2 mutant is equivalent to a A606T change in the human ATP1A2 gene, a pathogenic variant which causes familial hemiplegic migraine 2 (FHM2).
G23930700A
G1849A
A617T | SERCA-PA; A617T | SERCA-PB; A617T | SERCA-PC; A617T | SERCA-PD; A617T | SERCA-PE; A617T | SERCA-PF; A617T | SERCA-PG; A617T | SERCA-PH; A617T | SERCA-PI
A671T
Heterozygotes behave normally at 21[o]C, but are unable to stand upright after incubation at 37[o]C. Heterozygotes and homozygotes show the same temperature sensitive uncoordination phenotype, with the only difference being the onset of uncoordination at the higher temperature.