Statements (8)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
|
| gptkbp:affects |
gptkb:protein
|
| gptkbp:aminoAcidChange |
Methionine at position 512
|
| gptkbp:notation |
M512
|
| gptkbp:position |
512
|
| gptkbp:bfsParent |
gptkb:R1a
|
| gptkbp:bfsLayer |
9
|
| http://www.w3.org/2000/01/rdf-schema#label |
M512 mutation
|