PMID: 33269076

Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.

Biomedical reports
Miroshnikova, Valentina V VV, Romanova, Olga V OV, Ivanova, Olga N ON, Fedyakov, Mikhail A MA, Panteleeva, Alexandra A AA, Barbitoff, Yury A YA, Muzalevskaya, Maria V MV, Urazgildeeva, Sorejya A SA, Gurevich, Victor S VS, Urazov, Stanislav P SP, Scherbak, Sergey G SG, Sarana, Andrey M AM, Semenova, Natalia A NA, Anisimova, Inga V IV, Guseva, Darya M DM, Pchelina, Sofya N SN, Glotov, Andrey S AS, Zakharova, Ekaterina Y EY, Glotov, Oleg S OS
2021-01

51 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
2-44102425-G-T ABCG8 c.1629G>T p.R543S Missense 11/13 -
1-55524303-C-T PCSK9 c.1486C>T p.R496W Missense 9/12 -
2-44099233-G-A ABCG8 c.1083G>A p.W361* Nonsense 7/13 -
2-21229160-C-T APOB c.10580G>A p.R3527Q Missense 26/29 -
1-55523127-G-T PCSK9 c.1120G>T p.D374Y Missense 7/12 -
2-21229160-C-A APOB c.10580G>T p.R3527L Missense 26/29 -
10-90982268-C-T LIPA c.894G>A p.Q298= Synonymous 8/10 -
19-11217344-T-A LDLR c.798T>A p.D266E Missense 5/18 -
19-11233939-C-T LDLR c.2230C>T p.R744* Nonsense 15/18 -
19-11227604-G-A LDLR c.1775G>A p.G592E Missense 12/18 -
2-21224811-ACTG-A APOB c.13480_13482delCAG p.Q4494del InFrameDeletion 29/29 -
19-11221373-G-A LDLR c.986G>A p.C329Y Missense 7/18 -
2-21230565-G-A APOB c.9175C>T p.R3059C Missense 26/29 -
19-11222316-G-T LDLR c.1186+1G>T - IntronicSNV - 8/17
2-44050063-G-A ABCG5 c.1336C>T p.R446* Nonsense 10/13 -
2-21238259-C-G APOB c.3491G>C p.R1164T Missense 22/29 -
19-11218185-AGTGCGGTGAGTCTCG-A LDLR c.940_940+14del15 - SpliceDonorDeletion 6/18 6/17
19-11216200-T-G LDLR c.618T>G p.S206R Missense 4/18 -
19-11224044-T-C LDLR c.1277T>C p.L426P Missense 9/18 -
19-11223995-A-G LDLR c.1228A>G p.R410G Missense 9/18 -
19-11221435-C-T LDLR c.1048C>T p.R350* Nonsense 7/18 -
19-11223969-T-A LDLR c.1202T>A p.L401H Missense 9/18 -
19-11227559-G-C LDLR c.1730G>C p.W577S Missense 12/18 -
1-241661175-G-A FH c.1486C>T p.Q496* Nonsense 10/10 -
10-90982268-C-G LIPA c.894G>C p.Q298H Missense 8/10 -
19-11224327-ACT-A LDLR c.1478_1479delCT p.S493Cfs*42 Frameshift 10/18 -
1-241665793-C-G FH c.1186G>C p.V396L Missense 8/10 -
19-11210931-T-G LDLR c.100T>G p.C34G Missense 2/18 -
19-11215907-T-G LDLR c.325T>G p.C109G Missense 4/18 -
19-11216134-T-G LDLR c.552T>G p.C184W Missense 4/18 -
19-11218137-G-A LDLR c.887G>A p.C296Y Missense 6/18 -
19-11218138-C-A LDLR c.888C>A p.C296* Nonsense 6/18 -
19-11218188-G-A LDLR c.938G>A p.C313Y Missense 6/18 -
19-11218188-GC-AT LDLR c.938_939delinsAT p.C313Y SpliceDonorBlockSubstitution 6/18 -
4-110901990-C-T EGF c.2230C>T p.P744S Missense 15/24 -
19-11222315-G-A LDLR c.1186G>A p.G396S Missense 8/18 -
19-11227630-G-A LDLR c.1801G>A p.D601N Missense 12/18 -
19-11222315-G-C LDLR c.1186G>C p.G396R Missense 8/18 -
19-11215983-G-C LDLR c.401G>C p.C134S Missense 4/18 -
19-11216198-A-C LDLR c.616A>C p.S206R Missense 4/18 -
19-11226866-GTGGCCCAA-G LDLR c.1688_1695delCCAATGGC p.P563Hfs*14 Frameshift 11/18 -
4-110890234-TGTGGACTG-T EGF c.1685_1692delTGGACTGG p.V562Dfs*4 Frameshift 11/24 -
19-11215897-CCCCAAGACGTGCT-C LDLR c.320_332del13 p.K107Rfs*95 Frameshift 4/18 -
19-11216013-C-CG LDLR c.433dupG p.V145Gfs*35 Frameshift 4/18 -
19-11218144-G-A LDLR c.894G>A p.M298I Missense 6/18 -
2-21255301-A-G APOB c.1277T>C p.L426P Missense 10/29 -
2-44079937-G-A ABCG8 c.894G>A p.Q298= Synonymous 6/13 -
2-27447977-C-T CAD c.1486C>T p.R496W Missense 11/44 -
2-44058973-C-T ABCG5 c.436G>A p.E146K Missense 4/13 -
2-44040290-C-T ABCG5 c.1921G>A p.V641I Missense 13/13 -
1-55512232-G-A PCSK9 c.436G>A p.D146N Missense 3/12 -