Table 3

Rare damaging FLNB variants detected in patients with AIS

Sample IDPositionreIDGenotypeNucleotide
change*
Protein changeMax freq†Additional mutations of AIS-associated genes
98–1Chr3:58 064 498Heterozygotesc.G596Ap.R199QN ESR2, POC5
98–4Chr3:58 087 993Heterozygotesc.G1409Ap.R470Q2.39E-05 IFT27
98–7Chr3:58 133 944Heterozygotesc.C5740Tp.R1914W5.00E-04 FBN1, TTLL3
98–13Chr3:58 134 076Heterozygotesc.C5872Tp.P1958SN PTK7
98–16Chr3:58 139 231rs199939739Heterozygotesc.C6497Tp.T2166M,5.66E-05 CLUAP1
98–32Chr3:58 148 980rs186952950Heterozygotesc.G7121Ap.R2374H5.30E-05 PTK7
98–73Chr3:58 134 496rs563096120Heterozygotesc.G6008Ap.R2003H4.38E-05 OFD1
98–84Chr3:58 112 379Heterozygotesc.C4112Tp.S1371L4.37E-05
Trio-22Chr3:58 090 893Heterozygotesc.G1697Tp.R566LN TTC26
Trio-25Chr3:58 090 892rs778577280Heterozygotesc.C1696Tp.R566WN PTK7
Trio-27Chr3:58 141 758Heterozygotesc.G6844Ap.A2282TN TTC26
Trio-31Chr3:58 090 941Heterozygotesc.T1745Cp.L582PN IFT122
Trio-32Chr3:58 109 123rs199959926Heterozygotesc.G3430Cp.E1144Q7.21E-03 COL11A2, PTK7
24–3Chr3:58 129 322rs200677473Heterozygotesc.A5407Tp.M1803L6.50E-03
24–17Chr3:58 145 335rs754457328Heterozygotesc.G6943Ap.A2315T1.06E-04
24–21Chr3:58 155 406rs761994878Heterozygotesc.A7507Gp.S2503G1.74E-04
59–1Chr3:58 108 868Heterozygotesc.G3175Ap.A1059TN IFT88, CHL1, PTK7
59–2Chr3:58 109 276rs200993986Heterozygotesc.G3583Ap.V1195M8.20E-03 TTLL3
59–10Chr3:58 110 215Heterozygotesc.A3881Gp.Y1294CN TTC26
59–15Chr3:58 121 758Heterozygotesc.C4724Tp.T1575M1.00E-04
59–19Chr3:58 121 848rs201630300Heterozygotesc.G4814Ap.R1605H4.00E-03
59–32Chr3:58 129 322rs200677473Heterozygotesc.A5407Tp.M1803L6.50E-03
59–47Chr3:58 133 944Heterozygotesc.C5740Tp.R1914W5.00E-04
43–4Chr3:58 129 322rs200677473Heterozygotesc.A5407Tp.M1803L6.50E-03
43–7Chr3:58 095 412rs756771275Heterozygotesc.C2309Tp.T770I4.00E-04 SOX6, TTC26
  • *Nucleotide change is based on FLNB isoform with accession of NM_001457.3.

  • †Maximum frequency across public databases: 1000 Genomes Project phase 3, Genome Aggregation Database and National Heart, Lung and Blood Institute Exome Sequencing Project databases.

  • AIS, adolescent idiopathic scoliosis; N, absence in any database.