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Table 1 Human actinin mutations and associated diseases or phenotypes

From: The actinin family of actin cross-linking proteins – a genetic perspective

Protein Mutation Domain Disease/Phenotype Reference
Actinin-1 Asp22Asn ABD CMTP [35]
  Gln32Lys ABD, CH1 CMTP [37]
  Arg46Gln ABD, CH1 CMTP [36, 37]
  Arg46Trp ABD, CH1 CMTP [35]
  Val105Ile ABD, CH1 CMTP [37]
  Glu225Lys ABD, CH2 CMTP [37]
  Gly251Arg ABD/Neck CMTP [35]
  Thr737Asn Rod/CaM CMTP [35]
  Arg738Trp Rod/CaM CMTP [37]
  *Arg752Gln CaM, EF12 CMTP [37]
  Gly764Ser CaM, EF12 CMTP [35]
  Glu769Lys CaM, EF12 CMTP [35]
Actinin-2 Gln9Arg ABD DCM [41]
  Gly111Val ABD, CH1 HCM [42]
  Ala119Thr ABD, CH1 HCM, DCM, IVF, LVNC, SUD [45, 44]
  Met228Thr ABD, CH2 HCM + Atrial Arrhythmias [46]
  Thr495Met Rod, SLR2 HCM [44, 42]
  Glu583Ala Rod, SLR3 HCM [44]
  Glu628Gly Rod, SLR3 HCM [44]
  *Arg759Thr CaM, EF12 HCM [42]
Actinin-3 Arg577X Rod, SLR3 Altered muscle metabolism [50]
Actinin-4 Trp59Arg ABD, CH1 FSGS [77]
  Ile149del ABD, CH1 FSGS [77]
  Lys255Glu ABD, CH2 FSGS [76]
  Thr259Ile ABD, CH2 FSGS [76]
  Ser262Pro ABD, CH2 FSGS [76]
  1. Mutations in the four human actinin proteins that are associated with diseases or phenotypic traits are listed.
  2. The protein domain and subdomain (e.g. ABD, CH1) in which each mutation occurs is indicated in the third column. A forward slash (e.g. Rod/CaM) indicates a mutation within a region linking the two domains indicated. The asterisk indicates that these are equivalent Arg residues in a sequence alignment of actinin-1 and −2. A multiple sequence alignment highlighting the postions of disease-causing mutations is provided as additional information [Additional file 1].
  3. Abbreviations: IVF Idiopathic ventricular fibrillation, LVNC Left ventricular non-compaction, SUD Sudden unexplained death, CMTP Congenital macrothrombocytopenia, HCM Hypertrophic cardiomyopathy, DCM Dilated cardiomyopathy, FSGS Focal segmental glomerulosclerosis