Location Nucleotide change Mutation type

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Location Nucleotide change Mutation type Effect on protein (mutation class) Numbers of patients TC TG HDL-C LDL-C Intron 1-Intron 3 c.68-?_313+?del Large deletion Binding defective (3) 14 316±61 122±100 48±13 244±60 Exon 2 c.137G>A Missense Cys-Tyr 1 342 124 45 272 Exon 4 c.344G>A Arg-His 2 300±1 c.611G>C Cys-Ser 4 324±67 144±26 45±18 256±59 Exon 5 c.796G>A Asp-Asn 3 319±38 87±45 50±12 252±38 Intron 7-Intron 14 c.941-?_2140+?del Binding/recycling defective (3/5) 346±118 92±21 49±5 279±118 Exon 9 c.1297G>C Asp-His 6 366±56 105±60 47±11 297±51 Exon 10 c.1567G>A Val-Met (2A) 336±44 120±60 47±15 255±60 Exon 11 c.1689dupC Insertion Frameshift/stop 315±60 207±142 56±21 223±54 Exon 13 c.1871_1873delTCA Deletion 602 Ile deletion 335±42 139±43 42±10 264±46 Exon 14 c.2054C>T Pro-Leu (2B) 19 349±46 162±125 40±13 288±55 Exon 15-Exon 18 c.2141-?_2583+?del Truncated protein 322±58 110±48 252±55 Intron 15 c.2312-3C>A Splicing Exon 16 skip 12 335±68 89±65 43±7 258±61 Exon 17 c.2431A>T Nonsense Lys-stop 61 334±55 126±60 48±21 257±63 Value are ± SD; TC; total cholesterol, TG; triglyceride, HDL-C; high-density lipoprotein cholesterol, LDL-C; low density lipoprotein cholesterol Supplementary Table. Type of LDLR mutations of screened FH subjects. c.2431A>T mutation was the most common cause of FH in Hokuriku district of Japan

A B Proband Control A T LDLR exon 17 c.2431A>T C T A C T A LDLRAP1 G G A G A A C T G G G C T A LDLR exon 17 c.2431A>T C T A C T A B LDLRAP1 exon 6 c.606dup Supplementary Figure 1. DNA sequence data of the proband (left panel) and a control subject (right panel) for the LDLR gene exon 17 (A) and LDLRAP1 gene exon 6 (B). (A): Heterozygosity for a substitution of adenine to thymine was shown in the proband. (B): Heterozygosity for an extra cytosine insertion mutation in eight sequential cytosines between the nucleotide positions 599 and 606 (nucleotides are numbered from the first nucleotide that encodes the starting methyonine codon) was shown in the proband, with another single nucleotide polymorphism (c.604 C>T) in this lesion.

24mm R L Supplementary Figure 2. X-ray of proband’s Achilles’ tendon. The Achilles’ tendon thickness of the proband was as much as 24 mm with severe calcification.

RITA-RCA LITA-LAD Supplementary Figure 3. Coronary CT of the proband. Bypass grafts (RITA-RCA, LITA-LAD) were patent. RITA; right internal thoracic artery, RCA; right coronary artery, LITA; left internal thoracic artery. LAD; left anterior descending artery.

LV Ao LA LV-Ao PG=102mmHg Supplementary Figure 4. Echocardiogram of the proband. The peak velocity measured by continuous-wave Doppler through the aortic valve also increased from 5.05m/s, which corresponded to 102 mmHg of pressure gradient from the left ventricle to aorta. LV; left ventricle, LA; left atrium, Ao; aorta.