Assertion: threonine | /r/AtLocation | ld
Facets:
value: with the splice site
type: OTHER
value: with transcription factor site mutations
type: OTHER
Source sentences:
text: At present because we have found that the threonine to isoleucine amino-acid change is in LD with the splice site and transcription factor site mutations and there could be mutation synergy between all three changes in producing a pathological effect.