Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 130 | 613;614;615 | chr2:178800590;178800589;178800588 | chr2:179665317;179665316;179665315 |
| N2AB | 130 | 613;614;615 | chr2:178800590;178800589;178800588 | chr2:179665317;179665316;179665315 |
| N2A | 130 | 613;614;615 | chr2:178800590;178800589;178800588 | chr2:179665317;179665316;179665315 |
| N2B | 130 | 613;614;615 | chr2:178800590;178800589;178800588 | chr2:179665317;179665316;179665315 |
| Novex-1 | 130 | 613;614;615 | chr2:178800590;178800589;178800588 | chr2:179665317;179665316;179665315 |
| Novex-2 | 130 | 613;614;615 | chr2:178800590;178800589;178800588 | chr2:179665317;179665316;179665315 |
| Novex-3 | 130 | 613;614;615 | chr2:178800590;178800589;178800588 | chr2:179665317;179665316;179665315 |
Information
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/V | rs926251115  |
None | 0.893 | N | 0.35 | 0.276 | 0.637849144695 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -0.697(TCAP) | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/V | rs926251115 |
None | 0.893 | N | 0.35 | 0.276 | 0.637849144695 | gnomAD-4.0.0 | 6.57142E-06 | None | None | None | -0.697(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47011E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9023 | likely_pathogenic | 0.9362 | pathogenic | -0.492 | Destabilizing | 0.999 | D | 0.565 | neutral | None | None | None | -0.623(TCAP) | N |
| I/C | 0.9783 | likely_pathogenic | 0.9859 | pathogenic | -0.88 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | -0.285(TCAP) | N |
| I/D | 0.9646 | likely_pathogenic | 0.9754 | pathogenic | -0.163 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | -0.357(TCAP) | N |
| I/E | 0.9298 | likely_pathogenic | 0.9466 | pathogenic | -0.252 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | -0.463(TCAP) | N |
| I/F | 0.4557 | ambiguous | 0.5407 | ambiguous | -0.609 | Destabilizing | 0.999 | D | 0.671 | neutral | N | 0.412554836 | None | 0.01(TCAP) | N |
| I/G | 0.9812 | likely_pathogenic | 0.9882 | pathogenic | -0.591 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | -0.592(TCAP) | N |
| I/H | 0.9103 | likely_pathogenic | 0.9402 | pathogenic | 0.092 | Stabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | 0.118(TCAP) | N |
| I/K | 0.8604 | likely_pathogenic | 0.8921 | pathogenic | -0.368 | Destabilizing | 0.994 | D | 0.701 | prob.neutral | None | None | None | -0.749(TCAP) | N |
| I/L | 0.3029 | likely_benign | 0.3632 | ambiguous | -0.349 | Destabilizing | 0.864 | D | 0.339 | neutral | N | 0.485683329 | None | -0.74(TCAP) | N |
| I/M | 0.2729 | likely_benign | 0.3414 | ambiguous | -0.632 | Destabilizing | 0.998 | D | 0.671 | neutral | N | 0.506351438 | None | -0.446(TCAP) | N |
| I/N | 0.6653 | likely_pathogenic | 0.7346 | pathogenic | -0.275 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | N | 0.421326116 | None | -0.605(TCAP) | N |
| I/P | 0.9902 | likely_pathogenic | 0.9919 | pathogenic | -0.369 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | -0.697(TCAP) | N |
| I/Q | 0.8737 | likely_pathogenic | 0.909 | pathogenic | -0.439 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | -0.534(TCAP) | N |
| I/R | 0.8576 | likely_pathogenic | 0.89 | pathogenic | 0.099 | Stabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | -0.906(TCAP) | N |
| I/S | 0.799 | likely_pathogenic | 0.8537 | pathogenic | -0.681 | Destabilizing | 1.0 | D | 0.669 | neutral | N | 0.453941533 | None | -0.303(TCAP) | N |
| I/T | 0.8164 | likely_pathogenic | 0.8665 | pathogenic | -0.668 | Destabilizing | 0.999 | D | 0.612 | neutral | N | 0.439327141 | None | -0.388(TCAP) | N |
| I/V | 0.2833 | likely_benign | 0.3346 | benign | -0.369 | Destabilizing | 0.893 | D | 0.35 | neutral | N | 0.445713511 | None | -0.697(TCAP) | N |
| I/W | 0.965 | likely_pathogenic | 0.9764 | pathogenic | -0.618 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | 0.045(TCAP) | N |
| I/Y | 0.8469 | likely_pathogenic | 0.8824 | pathogenic | -0.396 | Destabilizing | 0.996 | D | 0.658 | neutral | None | None | None | -0.056(TCAP) | 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.