Statements (16)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
mutant
|
| gptkbp:affects |
gptkb:transthyretin
|
| gptkbp:alsoKnownAs |
gptkb:Val30Met
gptkb:V30M |
| gptkbp:aminoAcidChange |
valine to methionine at position 30
|
| gptkbp:associatedWith |
gptkb:familial_amyloid_polyneuropathy
gptkb:transthyretin_amyloidosis |
| gptkbp:firstDescribed |
1952
|
| https://www.w3.org/2000/01/rdf-schema#label |
p.Val30Met
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:TTR_gene
|
| gptkbp:prevalence |
gptkb:Japan
gptkb:Portugal gptkb:Sweden |
| gptkbp:bfsParent |
gptkb:Val30Met
|
| gptkbp:bfsLayer |
8
|