Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3300 | 10123;10124;10125 | chr2:178764617;178764616;178764615 | chr2:179629344;179629343;179629342 |
| N2AB | 3300 | 10123;10124;10125 | chr2:178764617;178764616;178764615 | chr2:179629344;179629343;179629342 |
| N2A | 3300 | 10123;10124;10125 | chr2:178764617;178764616;178764615 | chr2:179629344;179629343;179629342 |
| N2B | 3254 | 9985;9986;9987 | chr2:178764617;178764616;178764615 | chr2:179629344;179629343;179629342 |
| Novex-1 | 3254 | 9985;9986;9987 | chr2:178764617;178764616;178764615 | chr2:179629344;179629343;179629342 |
| Novex-2 | 3254 | 9985;9986;9987 | chr2:178764617;178764616;178764615 | chr2:179629344;179629343;179629342 |
| Novex-3 | 3300 | 10123;10124;10125 | chr2:178764617;178764616;178764615 | chr2:179629344;179629343;179629342 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | rs1359178318  |
-0.801 | 0.999 | N | 0.632 | 0.662 | 0.481172606772 | gnomAD-2.1.1 | 7.08E-06 | None | None | None | None | N | None | 4.01E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.76E-06 | 0 |
| E/A | rs1359178318 |
-0.801 | 0.999 | N | 0.632 | 0.662 | 0.481172606772 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| E/A | rs1359178318 |
-0.801 | 0.999 | N | 0.632 | 0.662 | 0.481172606772 | gnomAD-4.0.0 | 6.19579E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47448E-06 | 0 | 0 |
| E/Q | None | None | 1.0 | N | 0.619 | 0.388 | 0.386882687439 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.8113 | likely_pathogenic | 0.8518 | pathogenic | -0.872 | Destabilizing | 0.999 | D | 0.632 | neutral | N | 0.517608093 | None | None | N |
| E/C | 0.9963 | likely_pathogenic | 0.9961 | pathogenic | -0.494 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| E/D | 0.7635 | likely_pathogenic | 0.8132 | pathogenic | -0.756 | Destabilizing | 0.999 | D | 0.475 | neutral | N | 0.495878608 | None | None | N |
| E/F | 0.996 | likely_pathogenic | 0.9963 | pathogenic | -0.075 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| E/G | 0.8685 | likely_pathogenic | 0.8855 | pathogenic | -1.234 | Destabilizing | 1.0 | D | 0.673 | neutral | N | 0.518799686 | None | None | N |
| E/H | 0.9722 | likely_pathogenic | 0.9758 | pathogenic | -0.171 | Destabilizing | 1.0 | D | 0.637 | neutral | None | None | None | None | N |
| E/I | 0.9828 | likely_pathogenic | 0.9875 | pathogenic | 0.121 | Stabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| E/K | 0.8401 | likely_pathogenic | 0.8697 | pathogenic | -0.421 | Destabilizing | 0.999 | D | 0.611 | neutral | N | 0.518417042 | None | None | N |
| E/L | 0.9784 | likely_pathogenic | 0.982 | pathogenic | 0.121 | Stabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| E/M | 0.9754 | likely_pathogenic | 0.9806 | pathogenic | 0.453 | Stabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| E/N | 0.9411 | likely_pathogenic | 0.9515 | pathogenic | -1.04 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| E/P | 0.996 | likely_pathogenic | 0.9948 | pathogenic | -0.189 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| E/Q | 0.6844 | likely_pathogenic | 0.7485 | pathogenic | -0.882 | Destabilizing | 1.0 | D | 0.619 | neutral | N | 0.520304727 | None | None | N |
| E/R | 0.8958 | likely_pathogenic | 0.9096 | pathogenic | -0.052 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| E/S | 0.8477 | likely_pathogenic | 0.8743 | pathogenic | -1.335 | Destabilizing | 0.999 | D | 0.648 | neutral | None | None | None | None | N |
| E/T | 0.9171 | likely_pathogenic | 0.9383 | pathogenic | -1.021 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
| E/V | 0.9393 | likely_pathogenic | 0.9555 | pathogenic | -0.189 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | D | 0.605023838 | None | None | N |
| E/W | 0.9984 | likely_pathogenic | 0.9984 | pathogenic | 0.283 | Stabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| E/Y | 0.9914 | likely_pathogenic | 0.9924 | pathogenic | 0.203 | Stabilizing | 1.0 | D | 0.707 | 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.