Table 2.

Novel LDLR variants identified in the Oxford Lipid Clinic patients and the in silico prediction of their effect.

Mutation type/Exon	Variant position	PolyPhen2	SIFT	Mutation taster	Conclusion
Promoter
	c.-121T > C	N/A	N/A	D	Transcription factor binding site disruption (publication in preparation)
Missense
4	c.361T > A (p.(Cys121Ser))	D	D	D	FH-causing
4	c.629T > A (p.(Ile210Asn))	D	D	D	FH-causing
6	c.859G > A (p.(Gly287Ser))	D	D	D	FH-causing
9	c.1230G > T (p.(Arg410Ser))	D	D	D	FH-causing
14	c.2098G > A (p.(Asp700Asn))	P	D	D	FH-causing
17	c.2476C > A (p.(Pro826Thr))	D	D	D	FH-causing
Nonsense
6	c.898A > T (p.(Arg300*))	N/A	N/A	D	Formation of premature stop codon
Small rearrangements
4	c.667_693del (p.(Lys223_Cys231del))	N/A	N/A	N/A	Deletion of 9 highly conserved residues (Supplemental Data Fig. 1)
10	c.1379_1402delinsCAGCTTGACCCGC (p.(His460Profs*3))	N/A	N/A	N/A	Frame shift → premature stop codon
15	c.2187_2197del (p.(Leu729Leufs*39))	N/A	N/A	D	Frame shift → premature stop codon
Large rearrangements
11	c.1587-?_1845+?dup	N/A	N/A	N/A	Frame shift → premature stop codon

D–probably damaging (PolyPhen2), not tolerated (SIFT), disease causing (Mutation Taster)

P–possibly damaging.

N/A–not applicable.