Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16377 | 49354;49355;49356 | chr2:178614268;178614267;178614266 | chr2:179478995;179478994;179478993 |
| N2AB | 14736 | 44431;44432;44433 | chr2:178614268;178614267;178614266 | chr2:179478995;179478994;179478993 |
| N2A | 13809 | 41650;41651;41652 | chr2:178614268;178614267;178614266 | chr2:179478995;179478994;179478993 |
| N2B | 7312 | 22159;22160;22161 | chr2:178614268;178614267;178614266 | chr2:179478995;179478994;179478993 |
| Novex-1 | 7437 | 22534;22535;22536 | chr2:178614268;178614267;178614266 | chr2:179478995;179478994;179478993 |
| Novex-2 | 7504 | 22735;22736;22737 | chr2:178614268;178614267;178614266 | chr2:179478995;179478994;179478993 |
| Novex-3 | None | None | chr2:None | chr2:None |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/H | rs757542062  |
0.011 | 1.0 | D | 0.593 | 0.434 | 0.41883969893 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| D/H | rs757542062 |
0.011 | 1.0 | D | 0.593 | 0.434 | 0.41883969893 | gnomAD-4.0.0 | 6.84613E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99803E-07 | 0 | 0 |
| D/N | rs757542062 |
0.493 | 1.0 | N | 0.625 | 0.385 | 0.36893422563 | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 3.15E-05 | 0 |
| D/N | rs757542062 |
0.493 | 1.0 | N | 0.625 | 0.385 | 0.36893422563 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | I | None | 7.25E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 2.07383E-04 | 0 |
| D/N | rs757542062 |
0.493 | 1.0 | N | 0.625 | 0.385 | 0.36893422563 | gnomAD-4.0.0 | 1.79846E-05 | None | None | None | None | I | None | 8.02289E-05 | 0 | None | 0 | 0 | None | 0 | 1.6469E-04 | 1.52638E-05 | 4.39309E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9496 | likely_pathogenic | 0.9254 | pathogenic | -0.265 | Destabilizing | 1.0 | D | 0.665 | neutral | D | 0.594343557 | None | None | I |
| D/C | 0.9835 | likely_pathogenic | 0.9777 | pathogenic | 0.155 | Stabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | I |
| D/E | 0.7689 | likely_pathogenic | 0.7454 | pathogenic | -0.299 | Destabilizing | 1.0 | D | 0.401 | neutral | D | 0.543734501 | None | None | I |
| D/F | 0.9731 | likely_pathogenic | 0.9646 | pathogenic | -0.334 | Destabilizing | 1.0 | D | 0.648 | neutral | None | None | None | None | I |
| D/G | 0.942 | likely_pathogenic | 0.9133 | pathogenic | -0.447 | Destabilizing | 1.0 | D | 0.641 | neutral | D | 0.619048771 | None | None | I |
| D/H | 0.9627 | likely_pathogenic | 0.948 | pathogenic | -0.255 | Destabilizing | 1.0 | D | 0.593 | neutral | D | 0.555143761 | None | None | I |
| D/I | 0.9675 | likely_pathogenic | 0.9508 | pathogenic | 0.162 | Stabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | I |
| D/K | 0.9828 | likely_pathogenic | 0.9764 | pathogenic | 0.338 | Stabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | I |
| D/L | 0.9671 | likely_pathogenic | 0.951 | pathogenic | 0.162 | Stabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | I |
| D/M | 0.9894 | likely_pathogenic | 0.983 | pathogenic | 0.375 | Stabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | I |
| D/N | 0.6388 | likely_pathogenic | 0.5497 | ambiguous | 0.122 | Stabilizing | 1.0 | D | 0.625 | neutral | N | 0.46727078 | None | None | I |
| D/P | 0.9986 | likely_pathogenic | 0.9979 | pathogenic | 0.042 | Stabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | I |
| D/Q | 0.9723 | likely_pathogenic | 0.9605 | pathogenic | 0.143 | Stabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | I |
| D/R | 0.9838 | likely_pathogenic | 0.9771 | pathogenic | 0.419 | Stabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | I |
| D/S | 0.8825 | likely_pathogenic | 0.8282 | pathogenic | 0.016 | Stabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | I |
| D/T | 0.9548 | likely_pathogenic | 0.9266 | pathogenic | 0.155 | Stabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | I |
| D/V | 0.9247 | likely_pathogenic | 0.8871 | pathogenic | 0.042 | Stabilizing | 1.0 | D | 0.711 | prob.delet. | D | 0.617777017 | None | None | I |
| D/W | 0.9953 | likely_pathogenic | 0.9936 | pathogenic | -0.244 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | I |
| D/Y | 0.8621 | likely_pathogenic | 0.8193 | pathogenic | -0.109 | Destabilizing | 1.0 | D | 0.631 | neutral | N | 0.466660833 | 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.