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DESCRIBE <http://purl.uniprot.org/annotation/VAR_044118>
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http://purl.uniprot.org/annotation/VAR_044118
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Natural_Variant_Annotation
http://purl.uniprot.org/annotation/VAR_044118
http://www.w3.org/2000/01/rdf-schema#comment
"In CPVT2; alters protein folding; reduces calcium-binding; reduces calcium-dependent oligomerization; decreases sarcoplasmic reticulum Ca(2+) storing capacity; reduces the amplitude of I(Ca)-induced Ca(2+) transients; reduces spontaneous Ca(2+) sparks in permeabilized myocytes."
xsd:string
http://purl.uniprot.org/annotation/VAR_044118
http://www.w3.org/2000/01/rdf-schema#seeAlso
http://purl.uniprot.org/dbsnp/rs121434550
http://purl.uniprot.org/annotation/VAR_044118
http://purl.uniprot.org/core/range
http://purl.uniprot.org/range/22290623527991342tt167tt167
http://purl.uniprot.org/annotation/VAR_044118
http://www.w3.org/2004/02/skos/core#related
http://purl.uniprot.org/diseases/250
http://purl.uniprot.org/annotation/VAR_044118
http://purl.uniprot.org/core/substitution
"H"
xsd:string
http://purl.uniprot.org/uniprot/O14958
http://purl.uniprot.org/core/annotation
http://purl.uniprot.org/annotation/VAR_044118
http://purl.uniprot.org/uniprot/#_kb.O14958_up.annotation_a.VAR_044118
http://www.w3.org/1999/02/22-rdf-syntax-ns#object
http://purl.uniprot.org/annotation/VAR_044118