V30M

URI: https://gptkb.org/entity/V30M
GPTKB entity
Statements (13)
Predicate Object
gptkbp:instanceOf gptkb:mutant
gptkbp:aminoAcidChange valine to methionine
gptkbp:associatedWith gptkb:familial_amyloid_polyneuropathy
gptkb:cardiomyopathy
gptkbp:firstDescribed gptkb:Portugal
gptkbp:foundIn gptkb:TTR_gene
gptkbp:inheritance autosomal dominant
gptkbp:mutationAssociatedWith gptkb:transthyretin
gptkbp:OMIM 105210
gptkbp:position 30
gptkbp:bfsParent gptkb:Val30Met
gptkbp:bfsLayer 8
https://www.w3.org/2000/01/rdf-schema#label V30M