Baets J. et al.
Exon / Mutation / AA change / Mutation in original report / Ref / Origin4 / c.00172del? / ex04-06del / * (SL66) / Hungary
4 / c.00216delT / Cys72CysfsX76 / * (PN53) / Belgium
7 / c.00482delA / Asn161ThrfsX175 / c.482delA / e1 / Japan
7 / c.00502G>T / Asp168Tyr / e2 / The Netherlands
7 / c.00600_604+1delAACAGG / Ile200IlefsX206 / c.600_604+1delAACAGG / e3 / Italy
7 / c.00602C>A / Thr201Lys / * (SL467) / Belgium
8 / c.00922C>T / Leu308Phe / c.922C>T / e4 / Japan
8 / c.00961C>T / Arg321Stop / e2 / The Netherlands
8 / c.01184_1193delGTAACAGTGT / Cys395TrpfsX407 / g.32627_32636delACACTGTTAC / e5 / Japan
8 / c.01475/1476G>A / Trp492Stop / e2 / The Netherlands
8 / c.01607C>T / Pro536Leu / e6 / France
8 / c.01667T>C / Leu556Pro / * (NG9) / Morocco
8 / c.02060delA / Asp687ValfsX713 / g.31760delT / e5 / Japan
9 / c.02094-2A>G / intron07 / c.2094-2A>G / e2 / The Netherlands
9 / c.02182C>T / Arg728Stop / e2 / The Netherlands
9 / c.02185+1delG? / c.1891+1delG (erratum) / e2 / The Netherlands
10 / c.02405T>C / Leu802Pro / c.2405T>C / e1 / Japan
10 / c.02971T>C / Cys991Arg / * (PN831) / Belgium
10 / c.03161T>C / Phe1054Ser / c.987T>C / e7 / Japan
10 / c.03328_3329insA / Ile1110AsnfsX1111 / c.01155insA / e8 / Tunisia
10 / c.03421_3422insAC / Leu1141HisfsX1150 / * (NG8) / Belgium
10 / c.03585delT / Ile1195MetfsX1207/1206 / c.01411delT / e8 / Tunisia
10 / c.03932T>A / Met1311Lys / c.03491T>A / e9 / Belgium
10 / c.04033_4034insC / Gln1345ProfsX1349 / c.1859insC / e10 / Italy
10 / c.04034C>T / Gln1345Stop / c.3774C>T / e11 / Japan
10 / c.04108C>T / Gln1370Stop / c.1858C>T / e12 / Italy
10 / c.04192T>C / Cys1398Arg / c.2018T>C / e13 / Turkey
10 / c.04724G>C / Arg1575Pro / * (PN751) / Serbia
10 / c.04760A>G / His1587Arg / * (NG8) / Belgium
10 / c.04957G>T / Glu1653Stop / e2 / The Netherlands
10 / c.05125C>T / Gln1709Stop / e2 / The Netherlands
10 / c.05143A>T / Lys1715Stop / e2 / The Netherlands
10 / c.05201_5202delAG / Glu1734GlyfsX1736 / c.2951_2952delAG / e14 / Japan
10 / c.05836T>C / Trp1946Arg / c.03662T>C / e8 / Tunisia
10 / c.05990_5991delCT / Ser1997TyrfsX1999 /Asp1996AspfsX1999 / c.5988_5989delCT / e15 / Japan
10 / c.06004? / Arg2002fs / e2 / The Netherlands
10 / c.06093_6095delTTC / Ser2032del / * (PN751) / Serbia
10 / c.06172delT / Ser2058LeufsX2076 / c.3922delT / e14 / Japan
10 / c.06355C>T / Arg2119Stop / c.6355C>T / e16 / Japan
10 / c.06837_6838insA / Glu2280ArgfsX2291/Lys2279fsX2290 / c.4585insA / e12 / Italy
10 / c.07121T>C? / Leu2374Ser / c.6680T>C / e3 / Italy
10 / c.07250_7254delCAGAA / Thr2417ArgfsX2428/2429 / c.4999_5003delCAGAA / e12 / Italy
10 / c.07276C>T / Arg2426Stop / * (SL467) / Belgium
10 / c.07374delT / Leu2458LeufsX2474 / NG17 / * (NG17) / Belgium
10 / c.07504C>T / Arg2502Stop / c.5254C>T / e17 / Québec
10 / c.07673C>T / Ala2558Val / e6 / France
10 / c.08107C>T / Arg2703Cys / c.7848C>T / e18, e19 / Spain
10 / c.08393C>A / Pro2798Gln / * (NG9) / Morocco
10 / c.08401_8403delCAA / Gln2801del / e2 / The Netherlands
10 / c.08793delA / Lys2931AsnfsX2952 / c.6543delA / e20 / Japan
10 / c.08844delT / Pro2948ProfsX2952 / c.6594delT / e17 / Québec
10 / c.09742T>C / Trp3248Arg / c.7492T>C / e21 / Japan
10 / c.09910? / Leu3304fs / e2 / The Netherlands
10 / c.10298delC / Thr3433LysfsX3459/3458 / c.8124delC / e13 / Turkey
10 / c.10442T>C / Leu3481Pro / e2 / UK
10 / c.10906C>T / Arg3636Stop / e2 / The Netherlands
10 / c.10907G>A / Arg3636Gln / * (PN26, PN53, PN587, PN831) / Belgium
10 / c.10934T>C / Leu3645Pro / * (NG17) / Belgium
10 / c.10954C>A / Pro3652Thr / * (PN26, PN53, PN587, PN831) / Belgium
10 / c.10958T>C / Phe3653Ser / c.10517C>T / e22 / Belgium
10 / c.11234_11235delTT / Leu3745ArgfsX3746 / * (PN26) / Belgium
10 / c.11265_11266delAT / Ile3755MetfsX3762 / * (SL66) / Hungary
10 / c.11374C>T / Arg3792Stop / c.11374C>T / e23 / Tunisia
10 / c.11829_11832delAGTT / Leu3943LeufsX3950/3949 / c.9655_9658delAGTT / e13 / Turkey
10 / c.12160C>T / Gln4054Stop / e2 / The Netherlands
10 / c.12220G>C / Ala4074Pro / c.10046G>C / e8 / Tunisia
10 / c.12851_12854delAGAG / Glu4284AlafsX4306 / c.12846_12850delAGAG / e24 / Tunisia
10 / c.12973C>T / Arg4325Stop / c.12973C>T / e25 / Japan
10 / c.12992G>A / Arg4331Gln / e2 / The Netherlands
10 / c.13027G>A / Glu4343Lys / * (SL434) / Belgium
10 / c.13523A>C / Lys4508Thr / * (SL434) / Belgium
10 / c.13645A>G / Asn4549Asp / c.11471A>G / e13 / Turkey
deletion SACS and LGMD2C / 584kb (2genes) / e26 / Canada
deletion SACS gene / 1.54Mb (6 genes) / e22, e3 / Belgium, Italy
Table e-1. Previously identified SACS-mutations and new mutations identified in this study. Sequence variants have been renumbered to according to the longest transcript containing the 9 coding exons of SACS (NM_014363.4); Ex, exon; ?, exact genotype not determined; AA, amino acid; Ref, reference; *, this study.
e-References
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