Statements (13)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
mutant
|
| gptkbp:alsoKnownAs |
gptkb:V30M
gptkb:p.Val30Met |
| gptkbp:aminoAcidChange |
valine to methionine
|
| gptkbp:associatedWith |
gptkb:familial_amyloid_polyneuropathy
|
| gptkbp:firstDescribed |
1952
|
| gptkbp:foundIn |
exon 2 of TTR gene
|
| gptkbp:gene |
gptkb:TTR
|
| https://www.w3.org/2000/01/rdf-schema#label |
Val30Met
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:position |
30
|
| gptkbp:bfsParent |
gptkb:TTR_gene
|
| gptkbp:bfsLayer |
7
|