Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2224266949;66950;66951 chr2:178581544;178581543;178581542chr2:179446271;179446270;179446269
N2AB2060162026;62027;62028 chr2:178581544;178581543;178581542chr2:179446271;179446270;179446269
N2A1967459245;59246;59247 chr2:178581544;178581543;178581542chr2:179446271;179446270;179446269
N2B1317739754;39755;39756 chr2:178581544;178581543;178581542chr2:179446271;179446270;179446269
Novex-11330240129;40130;40131 chr2:178581544;178581543;178581542chr2:179446271;179446270;179446269
Novex-21336940330;40331;40332 chr2:178581544;178581543;178581542chr2:179446271;179446270;179446269
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: D
  • RefSeq wild type transcript codon: GAC
  • RefSeq wild type template codon: CTG
  • Domain: Fn3-49
  • Domain position: 87
  • Structural Position: 119
  • Q(SASA): 0.6813
  • 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
D/H None None 0.99 N 0.624 0.343 0.264081493735 gnomAD-4.0.0 1.59891E-06 None None None None I None 0 0 None 0 0 None 0 0 2.87467E-06 0 0
D/N None None 0.904 N 0.632 0.275 0.221019684889 gnomAD-4.0.0 1.59891E-06 None None None None I None 0 0 None 0 0 None 0 0 2.87467E-06 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
D/A 0.2372 likely_benign 0.2574 benign -0.492 Destabilizing 0.014 N 0.339 neutral N 0.474477308 None None I
D/C 0.7986 likely_pathogenic 0.8357 pathogenic -0.197 Destabilizing 0.994 D 0.677 prob.neutral None None None None I
D/E 0.1302 likely_benign 0.1428 benign -0.426 Destabilizing 0.025 N 0.119 neutral N 0.361826593 None None I
D/F 0.7287 likely_pathogenic 0.7534 pathogenic -0.194 Destabilizing 0.978 D 0.659 neutral None None None None I
D/G 0.4167 ambiguous 0.4439 ambiguous -0.731 Destabilizing 0.698 D 0.54 neutral N 0.488945329 None None I
D/H 0.4789 ambiguous 0.5297 ambiguous -0.021 Destabilizing 0.99 D 0.624 neutral N 0.514670492 None None I
D/I 0.4444 ambiguous 0.4786 ambiguous 0.106 Stabilizing 0.956 D 0.631 neutral None None None None I
D/K 0.4704 ambiguous 0.508 ambiguous 0.071 Stabilizing 0.86 D 0.564 neutral None None None None I
D/L 0.4453 ambiguous 0.4696 ambiguous 0.106 Stabilizing 0.915 D 0.573 neutral None None None None I
D/M 0.6634 likely_pathogenic 0.6997 pathogenic 0.259 Stabilizing 0.998 D 0.648 neutral None None None None I
D/N 0.1965 likely_benign 0.2026 benign -0.365 Destabilizing 0.904 D 0.632 neutral N 0.507032444 None None I
D/P 0.6343 likely_pathogenic 0.6688 pathogenic -0.071 Destabilizing 0.978 D 0.621 neutral None None None None I
D/Q 0.379 ambiguous 0.4279 ambiguous -0.296 Destabilizing 0.86 D 0.565 neutral None None None None I
D/R 0.5531 ambiguous 0.6036 pathogenic 0.354 Stabilizing 0.956 D 0.587 neutral None None None None I
D/S 0.2209 likely_benign 0.2283 benign -0.486 Destabilizing 0.754 D 0.499 neutral None None None None I
D/T 0.3521 ambiguous 0.3785 ambiguous -0.29 Destabilizing 0.86 D 0.613 neutral None None None None I
D/V 0.2706 likely_benign 0.2993 benign -0.071 Destabilizing 0.698 D 0.597 neutral N 0.493929861 None None I
D/W 0.9394 likely_pathogenic 0.9513 pathogenic 0.029 Stabilizing 0.998 D 0.753 deleterious None None None None I
D/Y 0.3985 ambiguous 0.4317 ambiguous 0.062 Stabilizing 0.99 D 0.658 neutral N 0.471622274 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.