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Table 1 List of mutations and polymorphisms in the LDL receptor gene in Petrozavodsk FH sample and methods of their detection

From: Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum

Mutation, systematic name [name according to Yamamoto nomenclature] [11] Nucleotide change Exon/intron Rapid test method Occurrence in other populations [3],[5] Number of families (patients) with the mutation or rare allele frequency
Missense-mutations
p. (Gly20Arg) [=p. G(−2)R] c.58 G > A exon 1 Fau I France, Austria, The Netherlands, New Zealand, Turkey, Croatia 1 (1)
p. (Ser206Arg) [=p.S185R] c.618 T > G exon 4B Bse21 I None (New) 1 (1)
p. (Ser447Cys) [=p. S426C] c.1340C > G exon 9 BslFI None (New) 1 (2)
p. (Leu511Ser) [=p. L490S] c.1532 T > C exon 10B AclI Italy 1 (1)
p. (Leu646Ile) [=p. L625I] c.1936C > A exon 13 SSCP None (New) 2 (2)
Frameshift mutations
p. (Ser65Glyfs*64) [=FsS44:D108X] c.192_201delinsGGACTTCA exon 3 Hph I None (New) 1 (2)
p. (Val66Cysfs*64) [=FsV45:D108X] c.195_196insT exon 3 SSCP None (New) 1 (1)
p. (Pro309Lysfs*59) [=FsE287: V348X] (FH North Karelia) c.925_931del exon 6 Bcc I Finland, Sweden, USA, St.Petersburg 1 (2)
p. (Trp562Cysfs*5) [=FsW541:L547X] c.1686_1693delinsT exon 11 Hae III None (New) 1 (2)
p. (Val731Serfs*6) [=FsV710:V715X] c.2191delG exon 15 SSCP None (New) 1 (2)
Putative splice site mutations or neutral mutations
p. (Asn591=) [=p.N570N] c. 1773C > T exon 12 Hinc II USA, China, Morocco, etc. 16%
Neutral mutations/polymorphisms
p. (Ala391Thr) [=p. A370T] c. 1171G > A exon 8 Stu I South Africa, England, France etc. 6%
Silent mutations/polymorphisms
p. (Ile398=) [=p. I377I] c.1194C > T exon 9 Bse3D I Austria 4 (4)
p. (Arg471=) [=p. R450R] c.1413 G > A exon 10A BslFI South Africa, Japan, Russia, Morocco etc. 34%
p. (Pro539=) [= p. P518P] c.1617C > T exon 11 BspACI Morocco, China, Russia, etc. 5%
p. (Asn640=) [=p. N619N] p.1920C > T exon 13 Sse 9 I Hispania, Austria. 1 (2)
p. (Val653=) [=p. V632V] c.1959C > T exon 13 Asp S9 I The Netherlands, USA, Russia, etc. 49%
p. (Arg744=) [=p. R723R] c.2232 G > A exon 15 Msp I Germany, China. 21%
  1. Footnote: SSCP – single-strand conformation polymorphism analysis. Numeration of nucleotides and aminoacids follows modern nomenclature (numerals according to Yamamoto’s nomenclature [11] are given in brackets.
  2. Footnote: Asterisk indicates that the codon with frameshift is followed by several non-wildtype codons up to newly appeared termination codon. For example, script p. (Trp562Cysfs*5) indicates that the frameshift occurs in codon 562 for tryptophan that is changed to codon for cysteine and is followed by 5 non-wildtype codons prior to termination codon.