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Table 1 Mutations identified in Czech LGMD2A probands

From: Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic

No. Mutations (cDNA level) Mutations (protein level)
1 - 23 c.550delA/c.550delA p.(Thr184Argfs*36)/p.(Thr184Argfs*36)
24, 25 c.550delA/c.245C > T p.(Thr184Argfs*36)/p.(Pro82Leu)
26 c.550delA/c.328C > T p.(Thr184Argfs*36)/p.(Arg110*)
27 c.550delA/c.509A > G p.(Thr184Argfs*36)/p.(Tyr170Cys)
28 c.550delA/c.598_612del p.Thr184Argfs*36/p.Phe200_Leu204del
29 c.550delA/c.1043delG p.(Thr184Argfs*36)/p.(Gly348Valfs*4)
30 c.550delA/c.1069C > T p.(Thr184Argfs*36)/p.(Arg357Trp)
31 c.550delA/c.1451T > C p.(Thr184Argfs*36)/p.(Leu484Pro)
32 c.550delA/c.1465C > T p.(Thr184Argfs*36)/p.(Arg489Trp)
33, 34 c.550delA/c.1468C > T p.Thr184Argfs*36/p.(Arg490Trp)
35 c.550delA/c.1470delG p.(Thr184Argfs*36)/p.(Arg490Argfs*6)
36, 37 c.550delA/c.1722delC p.Thr184Argfs*36/p.Ser575Leufs*20
38 c.550delA/c.1823G > A p.(Thr184Argfs*36)/p.(Arg608Lys)
39 c.550delA/c.1981delA p.Thr184Argfs*36/p.Ile661*
40 c.550delA/c.2245A > C p.(Thr184Argfs*36)/p.(Asn749His)
41 c.1A > G/c.865C > T p.(Met1Val)/p.(Arg289Trp)
42 c.133G > A/c.133G > A p.Ala45Thr/p.Ala45Thr
43 c.146G > A/c.1069C > T p.(Arg49His)/p.(Arg357Trp)
44 c.224A > G/c.224A > G p.Tyr75Cys/p.Tyr75Cys
45 c.245C > T/c.245C > T p.Pro82Leu/p.Pro82Leu
46 c.245C > T/c.1800 + 1G > A p.(Pro82Leu)/splicing
47 c.245C > T/c.1855C > T p.(Pro82Leu)/p.(Gln619*)
48 c.245C > T/c.2314_2317del p.Pro82Leu/p.Asp772Asnfs*3
49 c.509A > G/c.509A > G p.(Tyr170Cys)/p.(Tyr170Cys)
50 c.598_612del/c.598_612del p.(Phe200_Leu204del)/p.(Phe200_Leu204del)
51 c.598_612del/c.640G > A p.(Phe200_Leu204del)/p.(Gly214Ser)
52 c.598_612del/c.2245A > C p.Phe200_Leu204del/p.Asn749His
53 c.1043delG/c.1094G > A p.(Gly348Valfs*4)/p.(Trp365*)
54 c.1043delG/c.1343G > A p.(Gly348Valfs*4)/p.(Arg448His)
55 c.1194-9A > G/c.1800 + 1G > A splicing/splicing
56 c.1194-9A > G/c.2393C > A splicing/p.(Ala798Glu)
57 c.1250C > T/c.1250C > T p.(Thr417Met)/p.(Thr417Met)
58 c.1322G > A/c.1322G > A p.Gly441Asn/p.Gly441Asn
59 c.1322delG/c.2114A > G p.(Gly441Valfs*22)/p.(Asp705Gly)
60 c.1343G > A/c.2093G > A p.(Arg448His)/p.(Arg698His)
61 c.1468C > T/c.2314_2317del p.(Arg490Trp)/p.(Asp772Asnfs*3)
62 c.1788_1793del/c.2242C > T p.Lys597_Lys598del/p.Arg748*
63 - 66 c.598_612del/c.1746-20C > G p.(Phe200_Leu204del)/splicing
67 c.614T > C/c.1746-20C > G p.(Leu205Pro)/splicing
68, 69 c.550delA/- p.(Thr184Argfs*36)/-
70, 71 c.598_612del/- p.(Phe200_Leu204del)/-
  1. Mutations in bold letters were detected only in Czech LGMD2A patients.