About: uniprot:annotation/VAR_008443   Goto Sponge  NotDistinct  Permalink

An Entity of Type : uniprot:core/Natural_Variant_Annotation, within Data Space : wasabi.inria.fr associated with source document(s)

In STGD1; also found in a patient with chorioretinal atrophy; reduced ATP-binding capacity; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase.

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  • In STGD1; also found in a patient with chorioretinal atrophy; reduced ATP-binding capacity; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase.
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