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About: uniprot:annotation/VAR_008466 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 bull's eye maculopathy; uncertain significance; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; severely decreases N-Ret-PE-stimulated ATPase activity.

Attributes	Values
type	uniprot:core/Natural_Variant_Annotation
comment	In STGD1; also found in a patient with bull's eye maculopathy; uncertain significance; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; severely decreases N-Ret-PE-stimulated ATPase activity.
seeAlso	uniprot:dbsnp/rs61751406
described by	https://covidontheweb.inria.fr:4443/about/id/entity/http/identifiers.org/uniprot/P78363
has related	uniprot:diseases/1084
uniprot:core/range	uniprot:range/22578712653738798tt1794tt1794
uniprot:core/substitution	D
is topic of	http://identifiers.org/uniprot/P78363
is object of	uniprot:uniprot/#_kb.P78363_up.annotation_a.VAR_008466
is uniprot:core/annotation of	uniprot:uniprot/P78363

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