Table 3 List of the LDL receptor gene mutations reported previously from St. Petersburg, Russia [12 and References therein]
Mutation, systematic name | Nucleotide change | Exon/Intron | Rapid test method | Occurrence in other populations [7, 8] | Number of families (patients) with the mutation |
|---|---|---|---|---|---|
Large rearrangements | |||||
delta 5kb | Large deletion | exons 3-5 | Southern blot | None | 1 (2) |
Missense-mutations | |||||
C127W | c.444 T>G | exon 4 | Mva I | None | 1 (1) |
G128G, A130P | [c.447 T>C; c.451 G>C] | exon 4 | Cac 8 I, Bsu R I | None | 1 (1) |
C139G | c.478 T>G | exon 4 | Msp I | None | 1 (3) |
C146R | c.499 T>C | exon 4 | Apa I | None | 1 (3) |
C188Y | c.626 G>A | exon 4 | Rsa I | Czech Republic | 1 (3) |
G571E | c.1775 G>A | exon 12 | SSCP | Italy, Germany, Poland, Czech Republic, Austria, Belgium, Greece | 1 (1) |
Nonsense-mutations | |||||
C74X | c.285 C>A | exon 3 | DdeI | Korea, Northern Japan | 1 (1) |
E397X | c.1252 C>T | exon 9 | Alu I | None | 1 (7) |
In-frame deletions | |||||
347delGCC | c.347-349del | exon 4 | HA, Fnu4HI | None | 1 (1) |
G197del | c.652-654del | exon 4 | HA | Israel, USA, UK, Poland, Czech Republic, Germany, South Africa, The Netherlands | 7 (14) |
Neutral mutations | |||||
T705I (FH Paris-9) | c.2177 C>T | exon 15 | Â | Denmark, France, The Netherlands, UK, USA etc. | 1 (1) |
Silent mutations | |||||
H229H | c.750 C>T | exon 5 | Nco I | None (New) | 1 (1) |