Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26679 | 80260;80261;80262 | chr2:178566097;178566096;178566095 | chr2:179430824;179430823;179430822 |
| N2AB | 25038 | 75337;75338;75339 | chr2:178566097;178566096;178566095 | chr2:179430824;179430823;179430822 |
| N2A | 24111 | 72556;72557;72558 | chr2:178566097;178566096;178566095 | chr2:179430824;179430823;179430822 |
| N2B | 17614 | 53065;53066;53067 | chr2:178566097;178566096;178566095 | chr2:179430824;179430823;179430822 |
| Novex-1 | 17739 | 53440;53441;53442 | chr2:178566097;178566096;178566095 | chr2:179430824;179430823;179430822 |
| Novex-2 | 17806 | 53641;53642;53643 | chr2:178566097;178566096;178566095 | chr2:179430824;179430823;179430822 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/Q | None | None | 1.0 | D | 0.732 | 0.496 | 0.363944505237 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 0 | 0 |
| K/T | rs776990508  |
-0.024 | 1.0 | N | 0.741 | 0.559 | 0.434934176536 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| K/T | rs776990508 |
-0.024 | 1.0 | N | 0.741 | 0.559 | 0.434934176536 | gnomAD-4.0.0 | 3.42129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49767E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.9237 | likely_pathogenic | 0.9031 | pathogenic | -0.248 | Destabilizing | 0.999 | D | 0.699 | prob.neutral | None | None | None | None | N |
| K/C | 0.9378 | likely_pathogenic | 0.9274 | pathogenic | -0.455 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| K/D | 0.968 | likely_pathogenic | 0.9648 | pathogenic | 0.14 | Stabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| K/E | 0.8526 | likely_pathogenic | 0.8208 | pathogenic | 0.225 | Stabilizing | 0.999 | D | 0.644 | neutral | D | 0.531750035 | None | None | N |
| K/F | 0.9795 | likely_pathogenic | 0.9733 | pathogenic | -0.048 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| K/G | 0.9609 | likely_pathogenic | 0.9545 | pathogenic | -0.567 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| K/H | 0.6034 | likely_pathogenic | 0.594 | pathogenic | -0.793 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| K/I | 0.8451 | likely_pathogenic | 0.8099 | pathogenic | 0.55 | Stabilizing | 1.0 | D | 0.71 | prob.delet. | D | 0.524152059 | None | None | N |
| K/L | 0.8326 | likely_pathogenic | 0.7996 | pathogenic | 0.55 | Stabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| K/M | 0.7289 | likely_pathogenic | 0.6776 | pathogenic | 0.212 | Stabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| K/N | 0.917 | likely_pathogenic | 0.9019 | pathogenic | -0.217 | Destabilizing | 1.0 | D | 0.74 | deleterious | D | 0.532963544 | None | None | N |
| K/P | 0.9947 | likely_pathogenic | 0.9941 | pathogenic | 0.315 | Stabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| K/Q | 0.4714 | ambiguous | 0.4469 | ambiguous | -0.266 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | D | 0.535078342 | None | None | N |
| K/R | 0.096 | likely_benign | 0.094 | benign | -0.373 | Destabilizing | 0.999 | D | 0.595 | neutral | N | 0.454118758 | None | None | N |
| K/S | 0.9302 | likely_pathogenic | 0.9142 | pathogenic | -0.806 | Destabilizing | 0.999 | D | 0.695 | prob.neutral | None | None | None | None | N |
| K/T | 0.6991 | likely_pathogenic | 0.6502 | pathogenic | -0.528 | Destabilizing | 1.0 | D | 0.741 | deleterious | N | 0.506814305 | None | None | N |
| K/V | 0.8157 | likely_pathogenic | 0.7751 | pathogenic | 0.315 | Stabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| K/W | 0.9479 | likely_pathogenic | 0.9443 | pathogenic | 0.01 | Stabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| K/Y | 0.9291 | likely_pathogenic | 0.918 | pathogenic | 0.316 | Stabilizing | 1.0 | D | 0.69 | prob.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.