Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35727 | 107404;107405;107406 | chr2:178528572;178528571;178528570 | chr2:179393299;179393298;179393297 |
| N2AB | 34086 | 102481;102482;102483 | chr2:178528572;178528571;178528570 | chr2:179393299;179393298;179393297 |
| N2A | 33159 | 99700;99701;99702 | chr2:178528572;178528571;178528570 | chr2:179393299;179393298;179393297 |
| N2B | 26662 | 80209;80210;80211 | chr2:178528572;178528571;178528570 | chr2:179393299;179393298;179393297 |
| Novex-1 | 26787 | 80584;80585;80586 | chr2:178528572;178528571;178528570 | chr2:179393299;179393298;179393297 |
| Novex-2 | 26854 | 80785;80786;80787 | chr2:178528572;178528571;178528570 | chr2:179393299;179393298;179393297 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 1.0 | D | 0.742 | 0.76 | 0.59007929581 | gnomAD-4.0.0 | 1.59475E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.77593E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.502 | ambiguous | 0.4636 | ambiguous | -0.567 | Destabilizing | 1.0 | D | 0.742 | deleterious | D | 0.556035684 | None | None | I |
| G/C | 0.8814 | likely_pathogenic | 0.8862 | pathogenic | -0.85 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | D | 0.620273853 | None | None | I |
| G/D | 0.9508 | likely_pathogenic | 0.9526 | pathogenic | -1.171 | Destabilizing | 1.0 | D | 0.84 | deleterious | D | 0.635082388 | None | None | I |
| G/E | 0.9519 | likely_pathogenic | 0.9517 | pathogenic | -1.329 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/F | 0.9895 | likely_pathogenic | 0.9893 | pathogenic | -1.268 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | I |
| G/H | 0.9837 | likely_pathogenic | 0.9844 | pathogenic | -0.998 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | I |
| G/I | 0.9682 | likely_pathogenic | 0.9611 | pathogenic | -0.589 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | I |
| G/K | 0.9808 | likely_pathogenic | 0.9802 | pathogenic | -1.19 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/L | 0.9716 | likely_pathogenic | 0.9692 | pathogenic | -0.589 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | I |
| G/M | 0.9823 | likely_pathogenic | 0.9801 | pathogenic | -0.406 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | I |
| G/N | 0.9613 | likely_pathogenic | 0.9607 | pathogenic | -0.733 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| G/P | 0.9943 | likely_pathogenic | 0.9935 | pathogenic | -0.547 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/Q | 0.9611 | likely_pathogenic | 0.9603 | pathogenic | -1.068 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| G/R | 0.9395 | likely_pathogenic | 0.9374 | pathogenic | -0.683 | Destabilizing | 1.0 | D | 0.788 | deleterious | D | 0.651908966 | None | None | I |
| G/S | 0.4358 | ambiguous | 0.4323 | ambiguous | -0.829 | Destabilizing | 1.0 | D | 0.822 | deleterious | D | 0.555187388 | None | None | I |
| G/T | 0.8443 | likely_pathogenic | 0.8301 | pathogenic | -0.933 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/V | 0.9179 | likely_pathogenic | 0.9025 | pathogenic | -0.547 | Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.635889605 | None | None | I |
| G/W | 0.9729 | likely_pathogenic | 0.9734 | pathogenic | -1.453 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | I |
| G/Y | 0.9862 | likely_pathogenic | 0.9855 | pathogenic | -1.12 | Destabilizing | 1.0 | D | 0.731 | 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.