PMID: 15701167

Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.

BMC medical genetics
FM Zakharova, D Damgaard, MY Mandelshtam, VI Golubkov, PH Nissen, GG Nilsen, A Stenderup, BM Lipovetsky, VO Konstantinov, AD Denisenko, VB Vasilyev, O Faergeman
2005-02-08

23 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
8-133883796-T-G TG c.478T>G p.Cys160Gly Missense 4/48 -
3-197717485-G-A LMLN c.985G>A p.Asp329Asn Missense 9/16 -
1-55512247-G-C PCSK9 c.451G>C p.Ala151Pro Missense 3/12 -
1-55509692-C-T PCSK9 c.384C>T p.Gly128Gly Synonymous 2/12 -
1-55509593-C-A PCSK9 c.285C>A p.Ala95Ala Synonymous 2/12 -
1-230820904-TG-T COG2 c.1302delG p.Met434Ilefs*46 Frameshift 12/18 -
8-133894778-C-A TG c.810C>A p.Thr270Thr Synonymous 7/48 -
1-25889641-AGC-TGA LDLRAP1 c.613_615delAGCinsTGA p.Ser205* Nonsense 6/9 -
1-230805194-C-T COG2 c.687C>T p.His229His Synonymous 7/18 -
3-197703473-T-C LMLN c.436T>C p.Cys146Arg Missense 5/16 -
1-55529042-G-A PCSK9 c.1864G>A p.Val622Met Missense 12/12 -
3-197710835-C-T LMLN c.750C>T p.Asn250Asn Synonymous 7/16 -
1-230800295-T-C COG2 c.447T>C p.Ser149Ser Synonymous 5/18 -
3-197717542-GTT-TAA LMLN c.1042_1044delGTTinsTAA p.Val348* Nonsense 9/16 -
8-133900531-G-A TG c.2479G>A p.Ala827Thr Missense 10/48 -
1-25890217-G-T LDLRAP1 c.682G>T p.Ala228Ser Missense 7/9 -
1-241663875-G-A FH c.1252C>T p.His418Tyr Missense 9/10 -
8-133880389-C-T TG c.97C>T p.Pro33Ser Missense 2/48 -
1-230819355-T-A COG2 c.1202T>A p.Leu401His Missense 11/18 -
1-25883687-G-C LDLRAP1 c.388G>C p.Ala130Pro Missense 4/9 -
1-55512240-T-G PCSK9 c.444T>G p.Ser148Ser Synonymous 3/12 -
1-55509692-C-A PCSK9 c.384C>A p.Gly128Gly Synonymous 2/12 -
1-55509692-C-G PCSK9 c.384C>G p.Gly128Gly Synonymous 2/12 -