PMID: 23669246

Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.

Atherosclerosis
M Futema, RA Whittall, A Kiley, LK Steel, JA Cooper, E Badmus, SE Leigh, F Karpe, HA Neil, , SE Humphries
2013-07

52 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11222264-T-C LDLR c.1135T>C p.Cys379Arg Missense 8/18 -
19-11224052-G-A LDLR c.1285G>A p.Val429Met Missense 9/18 -
19-11210949-CA-C LDLR c.118delA p.Ile40Serfs*166 Frameshift 2/18 -
19-11226877-G-C LDLR c.1694G>C p.Gly565Ala Missense 11/18 -
19-11230819-C-T LDLR c.1897C>T p.Arg633Cys Missense 13/18 -
19-11216203-C-G LDLR c.621C>G p.Gly207Gly Synonymous 4/18 -
19-11213450-G-A LDLR c.301G>A p.Glu101Lys Missense 3/18 -
19-11224223-C-CT LDLR c.1371_1372insT p.Arg458*fs*1 Nonsense 10/18 -
19-11231156-G-A LDLR c.2098G>A p.Asp700Asn Missense 14/18 -
19-11233896-TAAAGGTCAGCT-T LDLR c.2187_2197del11 p.Lys730Hisfs*48 Frameshift 15/18 -
19-11223982-C-G LDLR c.1215C>G p.Asn405Lys Missense 9/18 -
19-11221435-C-T LDLR c.1048C>T p.Arg350* Nonsense 7/18 -
19-11213463-G-A LDLR c.313+1G>A - IntronicSNV - 3/17
19-11224288-T-C LDLR c.1436T>C p.Leu479Pro Missense 10/18 -
19-11218109-G-A LDLR c.859G>A p.Gly287Ser Missense 6/18 -
19-11216236-GTGG-G LDLR c.654_656delTGG p.Gly219delGly InFrameDeletion 4/18 -
19-11218148-A-T LDLR c.898A>T p.Arg300* Nonsense 6/18 -
19-11216084-G-A LDLR c.502G>A p.Asp168Asn Missense 4/18 -
8-133900239-CCTGTCAATTAC-C TG c.2187_2197del11 p.Cys730Valfs*2 Frameshift 10/48 -
19-11213408-T-G LDLR c.259T>G p.Trp87Gly Missense 3/18 -
19-11216262-GAC-G LDLR c.680_681delAC p.Asp227Glyfs*12 Frameshift 4/18 -
19-11224296-G-A LDLR c.1444G>A p.Asp482Asn Missense 10/18 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
19-11240275-C-A LDLR c.2476C>A p.Pro826Thr Missense 17/18 -
19-11215943-T-A LDLR c.361T>A p.Cys121Ser Missense 4/18 -
19-11223997-G-T LDLR c.1230G>T p.Arg410Ser Missense 9/18 -
1-241667401-CG-TA FH c.1048_1049delCGinsTA p.Arg350* Nonsense 7/10 -
19-11216273-CTGC-C LDLR c.691_693delTGC p.Cys231delCys InFrameDeletion 4/18 -
19-11216244-A-G LDLR c.662A>G p.Asp221Gly Missense 4/18 -
19-11226829-G-A LDLR c.1646G>A p.Gly549Asp Missense 11/18 -
19-11224419-G-A LDLR c.1567G>A p.Val523Met Missense 10/18 -
19-11216203-C-T LDLR c.621C>T p.Gly207Gly Synonymous 4/18 -
19-11216211-T-A LDLR c.629T>A p.Ile210Asn Missense 4/18 -
19-11218162-C-G LDLR c.912C>G p.Asp304Glu Missense 6/18 -
2-21229160-C-T APOB c.10580G>A p.Arg3527Gln Missense 26/29 -
19-11231112-C-T LDLR c.2054C>T p.Pro685Leu Missense 14/18 -
1-241671948-CAATCTTGATGATCTGTGCAAACTCTTT-C FH c.667_693del27 p.Lys223_ile231del InFrameDeletion 5/10 -
19-11224013-C-T LDLR c.1246C>T p.Arg416Trp Missense 9/18 -
19-11240200-CTTC-C LDLR c.2401_2403delTTC p.Phe801delPhe InFrameDeletion 17/18 -
19-11230863-TGTCC-T LDLR c.1941_1944delGTCC p.Ser648Glnfs*16 Frameshift 13/18 -
19-11240196-TCGTCTTCCT-T LDLR c.2397_2405delCGTCTTCCT p.Val800_leu802del InFrameDeletion 17/18 -
19-11216133-G-A LDLR c.551G>A p.Cys184Tyr Missense 4/18 -
19-11221436-G-C LDLR c.1049G>C p.Arg350Pro Missense 7/18 -
19-11216264-G-T LDLR c.682G>T p.Glu228* Nonsense 4/18 -
19-11224426-A-T LDLR c.1574A>T p.Asp525Val Missense 10/18 -
19-11224318-A-G LDLR c.1466A>G p.Tyr489Cys Missense 10/18 -
19-11210970-G-A LDLR c.139G>A p.Asp47Asn Missense 2/18 -
19-11218139-A-C LDLR c.889A>C p.Asn297His Missense 6/18 -
19-11231147-G-C LDLR c.2089G>C p.Ala697Pro Missense 14/18 -
19-11216249-CAAGGACAAATCTGACGAGGAAAACTGC-C LDLR c.667_693del27 - SpliceDonorDeletion 4/18 -
19-11216263-C-G LDLR c.681C>G p.Asp227Glu Missense 4/18 -
19-11216263-C-A LDLR c.681C>A p.Asp227Glu Missense 4/18 -