Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23269 | 70030;70031;70032 | chr2:178576327;178576326;178576325 | chr2:179441054;179441053;179441052 |
| N2AB | 21628 | 65107;65108;65109 | chr2:178576327;178576326;178576325 | chr2:179441054;179441053;179441052 |
| N2A | 20701 | 62326;62327;62328 | chr2:178576327;178576326;178576325 | chr2:179441054;179441053;179441052 |
| N2B | 14204 | 42835;42836;42837 | chr2:178576327;178576326;178576325 | chr2:179441054;179441053;179441052 |
| Novex-1 | 14329 | 43210;43211;43212 | chr2:178576327;178576326;178576325 | chr2:179441054;179441053;179441052 |
| Novex-2 | 14396 | 43411;43412;43413 | chr2:178576327;178576326;178576325 | chr2:179441054;179441053;179441052 |
| 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/E | rs750182587  |
-0.648 | 1.0 | D | 0.803 | 0.553 | None | gnomAD-2.1.1 | 1.95E-05 | None | None | None | None | I | None | 6.85E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.1E-05 | 0 |
| G/E | rs750182587 |
-0.648 | 1.0 | D | 0.803 | 0.553 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | I | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| G/E | rs750182587 |
-0.648 | 1.0 | D | 0.803 | 0.553 | None | gnomAD-4.0.0 | 3.05815E-05 | None | None | None | None | I | None | 4.11749E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.87178E-05 | 0 | 0 |
| G/R | rs935898140 |
None | 1.0 | N | 0.819 | 0.56 | 0.718113774898 | gnomAD-4.0.0 | 5.13405E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 5.15464E-04 | 3.00898E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8148 | likely_pathogenic | 0.7939 | pathogenic | -0.271 | Destabilizing | 1.0 | D | 0.623 | neutral | N | 0.490462042 | None | None | I |
| G/C | 0.8149 | likely_pathogenic | 0.7944 | pathogenic | -0.949 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| G/D | 0.9025 | likely_pathogenic | 0.8963 | pathogenic | -0.367 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | I |
| G/E | 0.9318 | likely_pathogenic | 0.9241 | pathogenic | -0.515 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.538787326 | None | None | I |
| G/F | 0.9699 | likely_pathogenic | 0.9638 | pathogenic | -0.923 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/H | 0.9471 | likely_pathogenic | 0.9362 | pathogenic | -0.297 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/I | 0.9539 | likely_pathogenic | 0.9424 | pathogenic | -0.44 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/K | 0.9503 | likely_pathogenic | 0.9407 | pathogenic | -0.684 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/L | 0.9487 | likely_pathogenic | 0.9412 | pathogenic | -0.44 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| G/M | 0.9628 | likely_pathogenic | 0.9569 | pathogenic | -0.648 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/N | 0.8567 | likely_pathogenic | 0.8434 | pathogenic | -0.405 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | I |
| G/P | 0.9944 | likely_pathogenic | 0.9928 | pathogenic | -0.354 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/Q | 0.9198 | likely_pathogenic | 0.911 | pathogenic | -0.641 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/R | 0.8903 | likely_pathogenic | 0.8766 | pathogenic | -0.261 | Destabilizing | 1.0 | D | 0.819 | deleterious | N | 0.506946909 | None | None | I |
| G/S | 0.5865 | likely_pathogenic | 0.5653 | pathogenic | -0.593 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | I |
| G/T | 0.8988 | likely_pathogenic | 0.8871 | pathogenic | -0.663 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/V | 0.9363 | likely_pathogenic | 0.9217 | pathogenic | -0.354 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.5509041 | None | None | I |
| G/W | 0.9489 | likely_pathogenic | 0.938 | pathogenic | -1.045 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/Y | 0.9494 | likely_pathogenic | 0.9395 | pathogenic | -0.72 | Destabilizing | 1.0 | D | 0.78 | deleterious | 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.