PMID: 24373485

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

BMC medical genetics
TY Komarova, VA Korneva, TY Kuznetsova, AS Golovina, VB Vasilyev, MY Mandelshtam
2013-12-27

39 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-241680557-CA-C FH c.192delT p.Asn64Lysfs*10 Frameshift 2/10 -
3-197762734-TT-T LMLN c.1687delT p.Trp563Glyfs*22 Frameshift 15/16 -
1-241680554-A-AA FH c.195dupT p.Lys66*fs*1 Nonsense 2/10 -
19-11222300-G-A LDLR c.1171G>A p.Ala391Thr Missense 8/18 -
4-110865104-TC-AG EGF c.616_617delTCinsAG p.Ser206Arg Missense 4/23 -
2-21255447-G-T APOB c.1131C>A p.Ile377Ile Synonymous 10/29 -
19-11233941-A-G LDLR c.2232A>G p.Arg744Arg Synonymous 15/18 -
2-21250831-G-T APOB c.1936C>A p.Pro646Thr Missense 14/29 -
19-11233939-C-A LDLR c.2230C>A p.Arg744Arg Synonymous 15/18 -
19-11226800-C-T LDLR c.1617C>T p.Pro539Pro Synonymous 11/18 -
19-11224263-A-C LDLR c.1411A>C p.Arg471Arg Synonymous 10/18 -
3-197717542-GTT-TAA LMLN c.1042_1044delGTTinsTAA p.Val348* Nonsense 9/16 -
2-21251255-G-A APOB c.1773C>T p.Asn591Asn Synonymous 13/29 -
2-21255447-G-A APOB c.1131C>T p.Ile377Ile Synonymous 10/29 -
3-197746231-C-G LMLN c.1340C>G p.Pro447Arg Missense 12/16 -
4-110884429-G-A EGF c.1413G>A p.Leu471Leu Synonymous 9/23 -
3-197762733-TTTGGGTCC-T LMLN c.1686_1693delTTGGGTCC p.Trp563Argfs*7 Frameshift 15/16 -
4-110882127-G-A EGF c.1171G>A p.Asp391Asn Missense 7/23 -
1-241665785-G-A FH c.1194C>T p.Gly398Gly Synonymous 8/10 -
19-11227602-C-T LDLR c.1773C>T p.Asn591Asn Synonymous 12/18 -
2-21252596-AG-TC APOB c.1531_1532delCTinsTC p.Leu511Ser Missense 12/29 -
19-11230881-T-G LDLR c.1959T>G p.Val653Val Synonymous 13/18 -
19-11213344-T-TT LDLR c.195dupT p.Val66Cysfs*64 Frameshift 3/18 -
19-11224107-C-G LDLR c.1340C>G p.Ser447Cys Missense 9/18 -
19-11200282-G-A LDLR c.58G>A p.Gly20Arg Missense 1/18 -
19-11230881-T-C LDLR c.1959T>C p.Val653Val Synonymous 13/18 -
19-11230881-T-A LDLR c.1959T>A p.Val653Val Synonymous 13/18 -
19-11226822-CT-TA LDLR c.1639_1640delCTinsTA p.Leu547* Nonsense 11/18 -
19-11224265-A-G LDLR c.1413A>G p.Arg471Arg Synonymous 10/18 -
19-11233900-GG-G LDLR c.2191delG p.Val731Serfs*6 Frameshift 15/18 -
3-197765466-G-T LMLN c.1896G>T p.Val632Val Synonymous 16/16 -
2-21251336-ACATAAGA-A APOB c.1687_1693delCTTATGT p.Leu563*fs*1 Frameshift 13/29 -
1-241682965-C-T FH c.58G>A p.Ala20Thr Missense 1/10 -
19-11233941-A-C LDLR c.2232A>C p.Arg744Arg Synonymous 15/18 -
19-11233941-A-T LDLR c.2232A>T p.Arg744Arg Synonymous 15/18 -
2-21249759-GAC-TAA APOB c.2143_2145delGTCinsTAA p.Val715* Nonsense 15/29 -
3-197765466-G-A LMLN c.1896G>A p.Val632Val Synonymous 16/16 -
3-197765466-G-C LMLN c.1896G>C p.Val632Val Synonymous 16/16 -
19-11223961-C-T LDLR c.1194C>T p.Ile398Ile Synonymous 9/18 -