Amino acid substitution S82L. This change is equivalent to a S77L change in the orthologous human SVIP gene, a variant identified in a patient with sporadic fronto-temporal dementia.
AGC9359485TTA
AGC>TTA
S82L | Svip-PA; S82L | Svip-PB
S82L
Analogous S77L mutation in human SVIP implicated in inclusion body myopathy.