Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6451 | 19576;19577;19578 | chr2:178728575;178728574;178728573 | chr2:179593302;179593301;179593300 |
| N2AB | 6134 | 18625;18626;18627 | chr2:178728575;178728574;178728573 | chr2:179593302;179593301;179593300 |
| N2A | 5207 | 15844;15845;15846 | chr2:178728575;178728574;178728573 | chr2:179593302;179593301;179593300 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/G | None | None | 1.0 | D | 0.787 | 0.888 | 0.660471063726 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| D/N | rs763946767  |
0.695 | 1.0 | D | 0.789 | 0.725 | 0.642796012904 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| D/N | rs763946767 |
0.695 | 1.0 | D | 0.789 | 0.725 | 0.642796012904 | gnomAD-4.0.0 | 2.73801E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59877E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9488 | likely_pathogenic | 0.9481 | pathogenic | 2.076 | Highly Stabilizing | 1.0 | D | 0.856 | deleterious | D | 0.664302979 | None | None | N |
| D/C | 0.9836 | likely_pathogenic | 0.9822 | pathogenic | 1.534 | Stabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| D/E | 0.8689 | likely_pathogenic | 0.8775 | pathogenic | -0.028 | Destabilizing | 1.0 | D | 0.596 | neutral | D | 0.625945809 | None | None | N |
| D/F | 0.9818 | likely_pathogenic | 0.9837 | pathogenic | 2.387 | Highly Stabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| D/G | 0.9525 | likely_pathogenic | 0.9472 | pathogenic | 1.593 | Stabilizing | 1.0 | D | 0.787 | deleterious | D | 0.648485422 | None | None | N |
| D/H | 0.8664 | likely_pathogenic | 0.854 | pathogenic | 1.924 | Stabilizing | 1.0 | D | 0.837 | deleterious | D | 0.603647284 | None | None | N |
| D/I | 0.9811 | likely_pathogenic | 0.982 | pathogenic | 3.354 | Highly Stabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| D/K | 0.9874 | likely_pathogenic | 0.9862 | pathogenic | 1.536 | Stabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| D/L | 0.9789 | likely_pathogenic | 0.9786 | pathogenic | 3.354 | Highly Stabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| D/M | 0.9881 | likely_pathogenic | 0.9902 | pathogenic | 3.407 | Highly Stabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| D/N | 0.5911 | likely_pathogenic | 0.6436 | pathogenic | 0.692 | Stabilizing | 1.0 | D | 0.789 | deleterious | D | 0.625542201 | None | None | N |
| D/P | 0.9981 | likely_pathogenic | 0.9977 | pathogenic | 2.963 | Highly Stabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| D/Q | 0.9681 | likely_pathogenic | 0.9723 | pathogenic | 1.189 | Stabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| D/R | 0.9906 | likely_pathogenic | 0.9907 | pathogenic | 1.012 | Stabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| D/S | 0.888 | likely_pathogenic | 0.8958 | pathogenic | 0.425 | Stabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| D/T | 0.9685 | likely_pathogenic | 0.9719 | pathogenic | 0.902 | Stabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| D/V | 0.9475 | likely_pathogenic | 0.95 | pathogenic | 2.963 | Highly Stabilizing | 1.0 | D | 0.861 | deleterious | D | 0.664908392 | None | None | N |
| D/W | 0.9955 | likely_pathogenic | 0.9962 | pathogenic | 1.979 | Stabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| D/Y | 0.8485 | likely_pathogenic | 0.8587 | pathogenic | 2.628 | Highly Stabilizing | 1.0 | D | 0.867 | deleterious | D | 0.632667866 | 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.