Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2723181916;81917;81918 chr2:178564441;178564440;178564439chr2:179429168;179429167;179429166
N2AB2559076993;76994;76995 chr2:178564441;178564440;178564439chr2:179429168;179429167;179429166
N2A2466374212;74213;74214 chr2:178564441;178564440;178564439chr2:179429168;179429167;179429166
N2B1816654721;54722;54723 chr2:178564441;178564440;178564439chr2:179429168;179429167;179429166
Novex-11829155096;55097;55098 chr2:178564441;178564440;178564439chr2:179429168;179429167;179429166
Novex-21835855297;55298;55299 chr2:178564441;178564440;178564439chr2:179429168;179429167;179429166
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: T
  • RefSeq wild type transcript codon: ACA
  • RefSeq wild type template codon: TGT
  • Domain: Fn3-86
  • Domain position: 62
  • Structural Position: 92
  • Q(SASA): 0.4021
  • Predicted PPI site: I

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
T/I rs1704907132 None 0.983 N 0.674 0.437 0.561867705733 gnomAD-3.1.2 6.57E-06 None None None None I None 0 0 0 0 0 None 0 0 0 2.07211E-04 0
T/I rs1704907132 None 0.983 N 0.674 0.437 0.561867705733 gnomAD-4.0.0 1.8604E-06 None None None None I None 0 0 None 0 0 None 0 0 1.69598E-06 1.09866E-05 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
T/A 0.103 likely_benign 0.0953 benign -0.802 Destabilizing 0.63 D 0.455 neutral N 0.495494336 None None I
T/C 0.3495 ambiguous 0.3497 ambiguous -0.483 Destabilizing 0.999 D 0.661 neutral None None None None I
T/D 0.5007 ambiguous 0.4465 ambiguous 0.152 Stabilizing 0.845 D 0.6 neutral None None None None I
T/E 0.3163 likely_benign 0.2891 benign 0.143 Stabilizing 0.916 D 0.601 neutral None None None None I
T/F 0.3336 likely_benign 0.2985 benign -0.968 Destabilizing 0.987 D 0.731 prob.delet. None None None None I
T/G 0.3935 ambiguous 0.3594 ambiguous -1.038 Destabilizing 0.845 D 0.586 neutral None None None None I
T/H 0.3164 likely_benign 0.3042 benign -1.294 Destabilizing 0.997 D 0.721 prob.delet. None None None None I
T/I 0.14 likely_benign 0.1329 benign -0.272 Destabilizing 0.983 D 0.674 neutral N 0.501241554 None None I
T/K 0.2972 likely_benign 0.2769 benign -0.586 Destabilizing 0.892 D 0.61 neutral N 0.515945503 None None I
T/L 0.1188 likely_benign 0.1091 benign -0.272 Destabilizing 0.916 D 0.591 neutral None None None None I
T/M 0.0914 likely_benign 0.0905 benign -0.056 Destabilizing 0.999 D 0.659 neutral None None None None I
T/N 0.1746 likely_benign 0.1569 benign -0.511 Destabilizing 0.073 N 0.359 neutral None None None None I
T/P 0.2714 likely_benign 0.2396 benign -0.417 Destabilizing 0.983 D 0.673 neutral N 0.497989551 None None I
T/Q 0.2462 likely_benign 0.2384 benign -0.652 Destabilizing 0.975 D 0.681 prob.neutral None None None None I
T/R 0.2556 likely_benign 0.23 benign -0.386 Destabilizing 0.967 D 0.67 neutral N 0.483644278 None None I
T/S 0.137 likely_benign 0.1255 benign -0.83 Destabilizing 0.099 N 0.393 neutral N 0.499266545 None None I
T/V 0.1082 likely_benign 0.1068 benign -0.417 Destabilizing 0.916 D 0.5 neutral None None None None I
T/W 0.6836 likely_pathogenic 0.66 pathogenic -0.894 Destabilizing 0.999 D 0.675 neutral None None None None I
T/Y 0.3861 ambiguous 0.3592 ambiguous -0.655 Destabilizing 0.996 D 0.733 prob.delet. None None None None I

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.