Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1428343072;43073;43074 chr2:178633512;178633511;178633510chr2:179498239;179498238;179498237
N2AB1264238149;38150;38151 chr2:178633512;178633511;178633510chr2:179498239;179498238;179498237
N2A1171535368;35369;35370 chr2:178633512;178633511;178633510chr2:179498239;179498238;179498237
N2B521815877;15878;15879 chr2:178633512;178633511;178633510chr2:179498239;179498238;179498237
Novex-1534316252;16253;16254 chr2:178633512;178633511;178633510chr2:179498239;179498238;179498237
Novex-2541016453;16454;16455 chr2:178633512;178633511;178633510chr2:179498239;179498238;179498237
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: R
  • RefSeq wild type transcript codon: CGC
  • RefSeq wild type template codon: GCG
  • Domain: Ig-93
  • Domain position: 53
  • Structural Position: 135
  • Q(SASA): 0.4061
  • Predicted PPI site: N

Reported SAVs

SNV RS
DUET
PolyPhen-2
Condel
Rhapsody
REVEL
MVP
Source
MAF
Disease
Zygosity
Site annotation
mCSM PPI
Predicted PPI site
Comments
AFR
AMR
AMS
ASJ
EAS
EUR
FIN
MDE
NFE
SAS
OTH
R/C rs199684560 -0.44 0.984 N 0.593 0.428 None gnomAD-2.1.1 6.79E-05 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 1.40854E-04 0
R/C rs199684560 -0.44 0.984 N 0.593 0.428 None gnomAD-3.1.2 4.6E-05 None None None None N None 0 0 0 0 0 None 0 0 8.83E-05 2.07469E-04 0
R/C rs199684560 -0.44 0.984 N 0.593 0.428 None 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 0 0 None None None 1E-03 None
R/C rs199684560 -0.44 0.984 N 0.593 0.428 None gnomAD-4.0.0 5.20691E-05 None None None None N None 1.33401E-05 0 None 0 0 None 1.56455E-05 0 6.69731E-05 2.19616E-05 1.60133E-05
R/H rs767899169 -1.39 0.005 N 0.251 0.152 0.211220785272 gnomAD-2.1.1 3.62E-05 None None None None N None 0 1.74075E-04 None 0 0 None 9.81E-05 None 0 0 0
R/P None None 0.705 D 0.597 0.499 0.509642975872 gnomAD-4.0.0 6.84398E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99588E-07 0 0
R/S None None 0.251 N 0.551 0.163 0.366848117066 gnomAD-4.0.0 6.84414E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99601E-07 0 0

Saturation Mutagenesis

SAV
AlphaMissense (IC)
AlphaMissense Class (IC)
AlphaMissense (N2AB)
AlphaMissense Class (N2AB)
mCSM
mCSM class
PolyPhen-2
PolyPhen-2 Class
Rhapsody
Rhapsody Class
Condel
Condel Score
Site annotation
mCSM PPI
Predicted PPI site
R/A 0.4429 ambiguous 0.4543 ambiguous -0.708 Destabilizing 0.149 N 0.505 neutral None None None None N
R/C 0.1657 likely_benign 0.1364 benign -0.66 Destabilizing 0.984 D 0.593 neutral N 0.50875347 None None N
R/D 0.6972 likely_pathogenic 0.7119 pathogenic 0.038 Stabilizing 0.38 N 0.556 neutral None None None None N
R/E 0.3719 ambiguous 0.4019 ambiguous 0.159 Stabilizing 0.081 N 0.46 neutral None None None None N
R/F 0.5104 ambiguous 0.5054 ambiguous -0.587 Destabilizing 0.235 N 0.601 neutral None None None None N
R/G 0.338 likely_benign 0.3124 benign -1.011 Destabilizing 0.251 N 0.546 neutral D 0.559921488 None None N
R/H 0.0974 likely_benign 0.0912 benign -1.326 Destabilizing 0.005 N 0.251 neutral N 0.511504695 None None N
R/I 0.266 likely_benign 0.2859 benign 0.1 Stabilizing 0.555 D 0.601 neutral None None None None N
R/K 0.1435 likely_benign 0.1191 benign -0.678 Destabilizing 0.002 N 0.139 neutral None None None None N
R/L 0.2323 likely_benign 0.2484 benign 0.1 Stabilizing 0.251 N 0.573 neutral N 0.511413645 None None N
R/M 0.3407 ambiguous 0.3353 benign -0.241 Destabilizing 0.935 D 0.536 neutral None None None None N
R/N 0.512 ambiguous 0.5332 ambiguous -0.165 Destabilizing 0.081 N 0.477 neutral None None None None N
R/P 0.8566 likely_pathogenic 0.8569 pathogenic -0.148 Destabilizing 0.705 D 0.597 neutral D 0.674888974 None None N
R/Q 0.1038 likely_benign 0.1053 benign -0.331 Destabilizing 0.38 N 0.522 neutral None None None None N
R/S 0.4687 ambiguous 0.4818 ambiguous -0.926 Destabilizing 0.251 N 0.551 neutral N 0.503766431 None None N
R/T 0.2653 likely_benign 0.2872 benign -0.622 Destabilizing 0.262 N 0.552 neutral None None None None N
R/V 0.347 ambiguous 0.3654 ambiguous -0.148 Destabilizing 0.555 D 0.57 neutral None None None None N
R/W 0.1915 likely_benign 0.1882 benign -0.272 Destabilizing 0.001 N 0.414 neutral None None None None N
R/Y 0.3231 likely_benign 0.3143 benign 0.033 Stabilizing 0.235 N 0.567 neutral None None None None N

Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.