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WebThe TorsinA ΔA14-P15 mutation is within the signal sequence and most likely results in improper targeting of TorsinA to the ER. TorsinA F205I is buried deep within the folded core of the protein and may result in improper hydrophobic packing leading to misfolding. WebSee 1 photo from 13 visitors to GPIB Torsina Surabaya. Write a short note about what you liked, what to order, or other helpful advice for visitors. WebJul 19, 2001 · TorsinA is the causative protein in the human neurologic disease early onset torsin dystonia, a movement disorder involving dysfunction in the basal ganglia without apparent neurodegeneration. Most cases result from a dominantly acting three-base pair deletion in the TOR1A gene causing loss of a glutamic acid near the carboxyl terminus of ... is boar plural