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