Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27355 | 82288;82289;82290 | chr2:178564069;178564068;178564067 | chr2:179428796;179428795;179428794 |
| N2AB | 25714 | 77365;77366;77367 | chr2:178564069;178564068;178564067 | chr2:179428796;179428795;179428794 |
| N2A | 24787 | 74584;74585;74586 | chr2:178564069;178564068;178564067 | chr2:179428796;179428795;179428794 |
| N2B | 18290 | 55093;55094;55095 | chr2:178564069;178564068;178564067 | chr2:179428796;179428795;179428794 |
| Novex-1 | 18415 | 55468;55469;55470 | chr2:178564069;178564068;178564067 | chr2:179428796;179428795;179428794 |
| Novex-2 | 18482 | 55669;55670;55671 | chr2:178564069;178564068;178564067 | chr2:179428796;179428795;179428794 |
| 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/D | rs1474733241  |
-0.029 | 1.0 | N | 0.661 | 0.463 | 0.463243292966 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs1474733241 |
-0.029 | 1.0 | N | 0.661 | 0.463 | 0.463243292966 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/D | rs1474733241 |
-0.029 | 1.0 | N | 0.661 | 0.463 | 0.463243292966 | gnomAD-4.0.0 | 3.71827E-06 | None | None | None | None | I | None | 0 | 1.66722E-05 | None | 0 | 0 | None | 0 | 0 | 3.39052E-06 | 1.09789E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1547 | likely_benign | 0.1777 | benign | -0.35 | Destabilizing | 1.0 | D | 0.634 | neutral | N | 0.383522522 | None | None | I |
| G/C | 0.4577 | ambiguous | 0.5222 | ambiguous | -1.028 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | N | 0.515204502 | None | None | I |
| G/D | 0.9327 | likely_pathogenic | 0.9534 | pathogenic | -0.491 | Destabilizing | 1.0 | D | 0.661 | neutral | N | 0.490758893 | None | None | I |
| G/E | 0.9142 | likely_pathogenic | 0.9435 | pathogenic | -0.634 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | I |
| G/F | 0.8992 | likely_pathogenic | 0.9257 | pathogenic | -1.051 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | I |
| G/H | 0.9278 | likely_pathogenic | 0.9505 | pathogenic | -0.397 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | I |
| G/I | 0.818 | likely_pathogenic | 0.8509 | pathogenic | -0.589 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | I |
| G/K | 0.9604 | likely_pathogenic | 0.9733 | pathogenic | -0.649 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | I |
| G/L | 0.8149 | likely_pathogenic | 0.8559 | pathogenic | -0.589 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | I |
| G/M | 0.8719 | likely_pathogenic | 0.8964 | pathogenic | -0.73 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | I |
| G/N | 0.8859 | likely_pathogenic | 0.9163 | pathogenic | -0.404 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | None | None | None | None | I |
| G/P | 0.9909 | likely_pathogenic | 0.9931 | pathogenic | -0.487 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | I |
| G/Q | 0.9014 | likely_pathogenic | 0.9318 | pathogenic | -0.626 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | I |
| G/R | 0.8801 | likely_pathogenic | 0.9195 | pathogenic | -0.285 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | N | 0.490251913 | None | None | I |
| G/S | 0.2632 | likely_benign | 0.3283 | benign | -0.579 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | N | 0.470104144 | None | None | I |
| G/T | 0.6234 | likely_pathogenic | 0.6703 | pathogenic | -0.653 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | I |
| G/V | 0.6583 | likely_pathogenic | 0.7149 | pathogenic | -0.487 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | N | 0.431545756 | None | None | I |
| G/W | 0.8667 | likely_pathogenic | 0.9016 | pathogenic | -1.131 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| G/Y | 0.891 | likely_pathogenic | 0.9203 | pathogenic | -0.849 | Destabilizing | 1.0 | D | 0.715 | 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.