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

22 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11216133-G-A LDLR c.551G>A p.Cys184Tyr Missense 4/18 -
19-11240275-C-A LDLR c.2476C>A p.Pro826Thr Missense 17/18 -
19-11231156-G-A LDLR c.2098G>A p.Asp700Asn Missense 14/18 -
19-11216273-CTGC-C LDLR c.691_693delTGC p.Cys231delCys InFrameDeletion 4/18 -
2-21229160-C-T APOB c.10580G>A p.Arg3527Gln Missense 26/29 -
19-11213450-G-A LDLR c.301G>A p.Glu101Lys Missense 3/18 -
19-11215944-G-C LDLR c.362G>C p.Cys121Ser Missense 4/18 -
1-241667401-CG-TA FH c.1048_1049delCGinsTA p.Arg350* Nonsense 7/10 -
19-11216211-T-A LDLR c.629T>A p.Ile210Asn Missense 4/18 -
19-11231112-C-T LDLR c.2054C>T p.Pro685Leu Missense 14/18 -
19-11223997-G-T LDLR c.1230G>T p.Arg410Ser Missense 9/18 -
19-11223997-G-C LDLR c.1230G>C p.Arg410Ser Missense 9/18 -
1-241671948-CAATCTTGATGATCTGTGCAAACTCTTT-C FH c.667_693del27 p.Lys223_ile231del InFrameDeletion 5/10 -
19-11218109-G-A LDLR c.859G>A p.Gly287Ser Missense 6/18 -
8-133900239-CCTGTCAATTAC-C TG c.2187_2197del11 p.Cys730Valfs*2 Frameshift 10/48 -
19-11216262-GAC-G LDLR c.680_681delAC p.Asp227Glyfs*12 Frameshift 4/18 -
19-11218148-A-T LDLR c.898A>T p.Arg300* Nonsense 6/18 -
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 -
19-11213408-T-G LDLR c.259T>G p.Trp87Gly Missense 3/18 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
19-11215943-T-A LDLR c.361T>A p.Cys121Ser Missense 4/18 -