PMID: 20551136

Structure-based kernels for the prediction of catalytic residues and their involvement in human inherited disease.

Bioinformatics (Oxford, England)
F Xin, S Myers, YF Li, DN Cooper, SD Mooney, P Radivojac

4 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
19-11215967-G-A LDLR c.385G>A p.Asp129Asn Missense 4/18 -
1-55524303-C-T PCSK9 c.1486C>T p.Arg496Trp Missense 9/12 -
1-55523127-G-C PCSK9 c.1120G>C p.Asp374His Missense 7/12 -
19-11224041-A-G LDLR c.1274A>G p.Asn425Ser Missense 9/18 -