Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32728 | 98407;98408;98409 | chr2:178539883;178539882;178539881 | chr2:179404610;179404609;179404608 |
| N2AB | 31087 | 93484;93485;93486 | chr2:178539883;178539882;178539881 | chr2:179404610;179404609;179404608 |
| N2A | 30160 | 90703;90704;90705 | chr2:178539883;178539882;178539881 | chr2:179404610;179404609;179404608 |
| N2B | 23663 | 71212;71213;71214 | chr2:178539883;178539882;178539881 | chr2:179404610;179404609;179404608 |
| Novex-1 | 23788 | 71587;71588;71589 | chr2:178539883;178539882;178539881 | chr2:179404610;179404609;179404608 |
| Novex-2 | 23855 | 71788;71789;71790 | chr2:178539883;178539882;178539881 | chr2:179404610;179404609;179404608 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/N | rs764737796  |
-1.102 | 0.975 | N | 0.785 | 0.622 | 0.843158877575 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.34E-05 | 0 |
| I/N | rs764737796 |
-1.102 | 0.975 | N | 0.785 | 0.622 | 0.843158877575 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/N | rs764737796 |
-1.102 | 0.975 | N | 0.785 | 0.622 | 0.843158877575 | gnomAD-4.0.0 | 3.84425E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.17964E-06 | 0 | 0 |
| I/V | None | None | 0.002 | N | 0.23 | 0.083 | 0.293502639404 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.8363 | likely_pathogenic | 0.8269 | pathogenic | -2.015 | Highly Destabilizing | 0.547 | D | 0.615 | neutral | None | None | None | None | I |
| I/C | 0.8719 | likely_pathogenic | 0.8529 | pathogenic | -1.155 | Destabilizing | 0.985 | D | 0.705 | prob.neutral | None | None | None | None | I |
| I/D | 0.9964 | likely_pathogenic | 0.9958 | pathogenic | -1.725 | Destabilizing | 0.981 | D | 0.787 | deleterious | None | None | None | None | I |
| I/E | 0.9842 | likely_pathogenic | 0.9813 | pathogenic | -1.687 | Destabilizing | 0.945 | D | 0.783 | deleterious | None | None | None | None | I |
| I/F | 0.3634 | ambiguous | 0.3613 | ambiguous | -1.383 | Destabilizing | 0.864 | D | 0.7 | prob.neutral | N | 0.430321965 | None | None | I |
| I/G | 0.9727 | likely_pathogenic | 0.9707 | pathogenic | -2.39 | Highly Destabilizing | 0.945 | D | 0.783 | deleterious | None | None | None | None | I |
| I/H | 0.9665 | likely_pathogenic | 0.9627 | pathogenic | -1.681 | Destabilizing | 0.995 | D | 0.788 | deleterious | None | None | None | None | I |
| I/K | 0.9567 | likely_pathogenic | 0.9503 | pathogenic | -1.522 | Destabilizing | 0.945 | D | 0.783 | deleterious | None | None | None | None | I |
| I/L | 0.2168 | likely_benign | 0.232 | benign | -1.024 | Destabilizing | 0.141 | N | 0.501 | neutral | N | 0.511878982 | None | None | I |
| I/M | 0.2174 | likely_benign | 0.2179 | benign | -0.719 | Destabilizing | 0.864 | D | 0.673 | neutral | N | 0.503817627 | None | None | I |
| I/N | 0.945 | likely_pathogenic | 0.9414 | pathogenic | -1.361 | Destabilizing | 0.975 | D | 0.785 | deleterious | N | 0.515845496 | None | None | I |
| I/P | 0.9831 | likely_pathogenic | 0.9822 | pathogenic | -1.326 | Destabilizing | 0.981 | D | 0.785 | deleterious | None | None | None | None | I |
| I/Q | 0.9549 | likely_pathogenic | 0.9464 | pathogenic | -1.507 | Destabilizing | 0.981 | D | 0.796 | deleterious | None | None | None | None | I |
| I/R | 0.9324 | likely_pathogenic | 0.9263 | pathogenic | -0.918 | Destabilizing | 0.945 | D | 0.795 | deleterious | None | None | None | None | I |
| I/S | 0.9157 | likely_pathogenic | 0.9083 | pathogenic | -1.969 | Destabilizing | 0.864 | D | 0.767 | deleterious | D | 0.528176586 | None | None | I |
| I/T | 0.8469 | likely_pathogenic | 0.8294 | pathogenic | -1.814 | Destabilizing | 0.645 | D | 0.712 | prob.delet. | D | 0.52390413 | None | None | I |
| I/V | 0.0795 | likely_benign | 0.0803 | benign | -1.326 | Destabilizing | 0.002 | N | 0.23 | neutral | N | 0.451299378 | None | None | I |
| I/W | 0.9628 | likely_pathogenic | 0.9589 | pathogenic | -1.536 | Destabilizing | 0.995 | D | 0.758 | deleterious | None | None | None | None | I |
| I/Y | 0.8572 | likely_pathogenic | 0.8356 | pathogenic | -1.323 | Destabilizing | 0.945 | D | 0.722 | 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.