PMID: 26608663

The distribution and characteristics of LDL receptor mutations in China: A systematic review.

Scientific reports
L Jiang, LY Sun, YF Dai, SW Yang, F Zhang, LY Wang
2015-11-26

130 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11217303-C-T LDLR c.757C>T p.Arg253Trp Missense 5/18 -
1-55521784-G-C PCSK9 c.918G>C p.Arg306Ser Missense 6/12 -
19-11224157-C-T LDLR c.1358+32C>T - IntronicSNV - 9/17
19-11200236-G-A LDLR c.12G>A p.Trp4* Nonsense 1/18 -
19-11222261-C-T LDLR c.1132C>T p.Gln378* Nonsense 8/18 -
19-11224096-GG-G LDLR c.1329delG p.Trp443Cysfs*8 Frameshift 9/18 -
19-11221435-C-T LDLR c.1048C>T p.Arg350* Nonsense 7/18 -
16-87902502-C-T SLC7A5 c.527G>A p.Cys176Tyr Missense 1/10 -
19-11224096-G-A LDLR c.1329G>A p.Trp443* Nonsense 9/18 -
8-133898800-AGA-TGG TG c.1183_1185delAGAinsTGG p.Arg395Trp Missense 9/48 -
1-241665850-A-C FH c.1129T>G p.Cys377Gly Missense 8/10 -
19-11231079-A-G LDLR c.2021A>G p.Asn674Ser Missense 14/18 -
19-11218142-CA-C LDLR c.892delA p.Met298Trpfs*72 Frameshift 6/18 -
19-11224291-C-T LDLR c.1439C>T p.Ala480Val Missense 10/18 -
16-87870172-C-T SLC7A5 c.1222G>A p.Val408Met Missense 8/10 -
19-11227586-C-A LDLR c.1757C>A p.Ser586* Nonsense 12/18 -
19-11223978-C-T LDLR c.1211C>T p.Thr404Ile Missense 9/18 -
19-11218140-AA-A LDLR c.890delA p.Asn297Thrfs*73 Frameshift 6/18 -
19-11216247-G-T LDLR c.665G>T p.Cys222Phe Missense 4/18 -
19-11221424-TG-AT LDLR c.1037_1038delTGinsAT p.Leu346His Missense 7/18 -
19-11230786-G-A LDLR c.1864G>A p.Asp622Asn Missense 13/18 -
8-133898800-AG-CT TG c.1183_1184delAGinsCT p.Arg395Leu Missense 9/48 -
19-11226874-A-G LDLR c.1691A>G p.Asn564Ser Missense 11/18 -
19-11224439-G-T LDLR c.1586+1G>T - IntronicSNV - 10/17
19-11224044-T-C LDLR c.1277T>C p.Leu426Pro Missense 9/18 -
19-11227608-GC-G LDLR c.1779delC p.Asn594Thrfs*71 Frameshift 12/18 -
19-11230801-G-A LDLR c.1879G>A p.Ala627Thr Missense 13/18 -
19-11224058-G-A LDLR c.1291G>A p.Ala431Thr Missense 9/18 -
19-11216095-CC-C LDLR c.513delC p.Asp172Thrfs*34 Frameshift 4/18 -
19-11217311-T-A LDLR c.765T>A p.Cys255* Nonsense 5/18 -
19-11223983-C-T LDLR c.1216C>T p.Arg406Trp Missense 9/18 -
19-11226775-T-A LDLR c.1592T>A p.Met531Lys Missense 11/18 -
19-11216246-T-C LDLR c.664T>C p.Cys222Arg Missense 4/18 -
1-241667350-A-T FH c.1100T>A p.Ile367Asn Missense 7/10 -
19-11227576-C-T LDLR c.1747C>T p.His583Tyr Missense 12/18 -
19-11226847-T-C LDLR c.1664T>C p.Leu555Pro Missense 11/18 -
19-11224089-T-C LDLR c.1322T>C p.Ile441Thr Missense 9/18 -
19-11227594-G-A LDLR c.1765G>A p.Asp589Asn Missense 12/18 -
1-241675312-GCC-TGA FH c.508_510delGGCinsTGA p.Gly170* Nonsense 4/10 -
19-11230775-GTATTTTGGACAG-G LDLR c.1853_1864del12 p.Val618_thr621del InFrameDeletion 13/18 -
19-11224008-T-G LDLR c.1241T>G p.Leu414Arg Missense 9/18 -
1-55521800-G-T PCSK9 c.934G>T p.Val312Phe Missense 6/12 -
1-55523849-GTG-ATC PCSK9 c.1321_1323delGTGinsATC p.Val441Ile Missense 8/12 -
19-11222229-T-A LDLR c.1100T>A p.Leu367His Missense 8/18 -
11-108043559-G-A NPAT c.2152C>T p.Gln718* Nonsense 13/18 -
19-11216077-G-A LDLR c.495G>A p.Trp165* Nonsense 4/18 -
19-11227646-C-T LDLR c.1817C>T p.Ala606Val Missense 12/18 -
19-11217315-C-T LDLR c.769C>T p.Arg257Trp Missense 5/18 -
19-11215946-A-T LDLR c.364A>T p.Ile122Phe Missense 4/18 -
1-241671980-TTTGCAT-T FH c.657_662delTGCAAA p.Asp219_lys221delinsGlu MultiAAMissense 5/10 -
19-11210928-C-T LDLR c.97C>T p.Gln33* Nonsense 2/18 -
19-11216010-G-A LDLR c.428G>A p.Cys143Tyr Missense 4/18 -
19-11230786-G-T LDLR c.1864G>T p.Asp622Tyr Missense 13/18 -
19-11224228-C-T LDLR c.1376C>T p.Ala459Val Missense 10/18 -
19-11216257-AA-A LDLR c.675delA p.Lys225Asnfs*40 Frameshift 4/18 -
19-11216026-T-A LDLR c.444T>A p.Cys148* Nonsense 4/18 -
19-11218076-T-G LDLR c.826T>G p.Cys276Gly Missense 6/18 -
19-11240242-C-T LDLR c.2443C>T p.Leu815Phe Missense 17/18 -
19-11224071-A-G LDLR c.1304A>G p.Glu435Gly Missense 9/18 -
19-11227549-CGC-TGG LDLR c.1720_1722delCGCinsTGG p.Arg574Trp Missense 12/18 -
19-11216153-C-T LDLR c.571C>T p.Gln191* Nonsense 4/18 -
1-55521784-G-T PCSK9 c.918G>T p.Arg306Ser Missense 6/12 -
19-11227630-G-T LDLR c.1801G>T p.Asp601Tyr Missense 12/18 -
19-11216264-G-A LDLR c.682G>A p.Glu228Lys Missense 4/18 -
19-11227630-G-A LDLR c.1801G>A p.Asp601Asn Missense 12/18 -
1-55521824-G-A PCSK9 c.958G>A p.Asp320Asn Missense 6/12 -
19-11226801-G-A LDLR c.1618G>A p.Ala540Thr Missense 11/18 -
19-11216172-G-A LDLR c.590G>A p.Cys197Tyr Missense 4/18 -
19-11224013-C-T LDLR c.1246C>T p.Arg416Trp Missense 9/18 -
19-11224024-C-A LDLR c.1257C>A p.Tyr419* Nonsense 9/18 -
19-11218078-C-A LDLR c.828C>A p.Cys276* Nonsense 6/18 -
19-11224284-G-A LDLR c.1432G>A p.Gly478Arg Missense 10/18 -
19-11224396-A-G LDLR c.1544A>G p.Asn515Ser Missense 10/18 -
19-11215968-A-G LDLR c.386A>G p.Asp129Gly Missense 4/18 -
19-11221441-T-A LDLR c.1054T>A p.Cys352Ser Missense 7/18 -
11-108044470-T-C NPAT c.1241A>G p.Glu414Gly Missense 13/18 -
19-11215967-G-T LDLR c.385G>T p.Asp129Tyr Missense 4/18 -
19-11216264-G-T LDLR c.682G>T p.Glu228* Nonsense 4/18 -
19-11221373-G-A LDLR c.986G>A p.Cys329Tyr Missense 7/18 -
1-55521821-CG-GA PCSK9 c.955_956delCGinsGA p.Arg319Glu Missense 6/12 -
8-125603438-A-G MTSS1 c.247T>C p.Cys83Arg Missense 4/14 -
19-11216099-T-C LDLR c.517T>C p.Cys173Arg Missense 4/18 -
19-11223944-G-A LDLR c.1187-10G>A - IntronicSNV - 8/17
1-241672009-TAGT-T FH c.632_634delTAC p.Leu211delLeu InFrameDeletion 5/10 -
11-108044156-C-T NPAT c.1555G>A p.Ala519Thr Missense 13/18 -
19-11210908-AGA-A LDLR c.77_78delGA p.Arg26Metfs*25 Frameshift 2/18 -
19-11210932-G-C LDLR c.101G>C p.Cys34Ser Missense 2/18 -
19-11222204-C-T LDLR c.1075C>T p.Gln359* Nonsense 8/18 -
19-11215926-G-A LDLR c.344G>A p.Arg115His Missense 4/18 -
19-11221403-T-C LDLR c.1016T>C p.Leu339Pro Missense 7/18 -
19-11224014-G-T LDLR c.1247G>T p.Arg416Leu Missense 9/18 -
19-11230799-A-G LDLR c.1877A>G p.Glu626Gly Missense 13/18 -
19-11216098-C-G LDLR c.516C>G p.Asp172Glu Missense 4/18 -
19-11227636-A-T LDLR c.1807A>T p.Lys603* Nonsense 12/18 -
19-11213417-G-A LDLR c.268G>A p.Asp90Asn Missense 3/18 -
19-11216263-C-G LDLR c.681C>G p.Asp227Glu Missense 4/18 -
11-108044342-C-G NPAT c.1369G>C p.Gly457Arg Missense 13/18 -
19-11226780-T-C LDLR c.1597T>C p.Trp533Arg Missense 11/18 -
19-11224300-G-A LDLR c.1448G>A p.Trp483* Nonsense 10/18 -
19-11217309-T-G LDLR c.763T>G p.Cys255Gly Missense 5/18 -
1-55521800-GT-AG PCSK9 c.934_935delGTinsAG p.Val312Ser Missense 6/12 -
19-11224035-T-C LDLR c.1268T>C p.Ile423Thr Missense 9/18 -
19-11216265-A-C LDLR c.683A>C p.Glu228Ala Missense 4/18 -
19-11216181-T-G LDLR c.599T>G p.Phe200Cys Missense 4/18 -
19-11224052-G-A LDLR c.1285G>A p.Val429Met Missense 9/18 -
11-108044342-C-T NPAT c.1369G>A p.Gly457Arg Missense 13/18 -
19-11224443-G-C LDLR c.1586+5G>C - IntronicSNV - 10/17
19-11238752-C-T LDLR c.2380C>T p.Leu794Phe Missense 16/18 -
19-11227615-A-G LDLR c.1786A>G p.Lys596Glu Missense 12/18 -
19-11222258-T-G LDLR c.1129T>G p.Cys377Gly Missense 8/18 -
19-11216132-T-C LDLR c.550T>C p.Cys184Arg Missense 4/18 -
19-11227645-G-A LDLR c.1816G>A p.Ala606Thr Missense 12/18 -
1-241671950-T-G FH c.691A>C p.Ile231Leu Missense 5/10 -
19-11224326-G-A LDLR c.1474G>A p.Asp492Asn Missense 10/18 -
19-11218140-A-C LDLR c.890A>C p.Asn297Thr Missense 6/18 -
19-11230789-A-G LDLR c.1867A>G p.Ile623Val Missense 13/18 -
4-152022282-G-T RPS3A c.322G>T p.Asp108Tyr Missense 3/6 -
19-11226844-C-T LDLR c.1661C>T p.Ser554Leu Missense 11/18 -
19-11230771-A-G LDLR c.1849A>G p.Lys617Glu Missense 13/18 -
19-11217355-G-A LDLR c.809G>A p.Cys270Tyr Missense 5/18 -
19-11224236-G-A LDLR c.1384G>A p.Val462Ile Missense 10/18 -
19-11221334-A-G LDLR c.947A>G p.Asn316Ser Missense 7/18 -
19-11227612-C-T LDLR c.1783C>T p.Arg595Trp Missense 12/18 -
19-11231133-C-G LDLR c.2075C>G p.Pro692Arg Missense 14/18 -
11-108056038-T-G NPAT c.827A>C p.Asn276Thr Missense 10/18 -
19-11227573-C-T LDLR c.1744C>T p.Leu582Phe Missense 12/18 -
19-11218100-T-C LDLR c.850T>C p.Cys284Arg Missense 6/18 -
19-11215965-G-A LDLR c.383G>A p.Cys128Tyr Missense 4/18 -
8-133885446-T-A TG c.618T>A p.Asp206Glu Missense 5/48 -
8-133885446-T-G TG c.618T>G p.Asp206Glu Missense 5/48 -