Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27135 | 81628;81629;81630 | chr2:178564729;178564728;178564727 | chr2:179429456;179429455;179429454 |
| N2AB | 25494 | 76705;76706;76707 | chr2:178564729;178564728;178564727 | chr2:179429456;179429455;179429454 |
| N2A | 24567 | 73924;73925;73926 | chr2:178564729;178564728;178564727 | chr2:179429456;179429455;179429454 |
| N2B | 18070 | 54433;54434;54435 | chr2:178564729;178564728;178564727 | chr2:179429456;179429455;179429454 |
| Novex-1 | 18195 | 54808;54809;54810 | chr2:178564729;178564728;178564727 | chr2:179429456;179429455;179429454 |
| Novex-2 | 18262 | 55009;55010;55011 | chr2:178564729;178564728;178564727 | chr2:179429456;179429455;179429454 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | 0.01 | N | 0.123 | 0.134 | 0.19670166235 | 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 |
| T/I | rs1341053219  |
None | 0.642 | N | 0.531 | 0.23 | 0.490771696789 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs1341053219 |
None | 0.642 | N | 0.531 | 0.23 | 0.490771696789 | gnomAD-4.0.0 | 6.57402E-06 | None | None | None | None | N | None | 2.41313E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0655 | likely_benign | 0.0671 | benign | -0.688 | Destabilizing | 0.01 | N | 0.123 | neutral | N | 0.515019996 | None | None | N |
| T/C | 0.2122 | likely_benign | 0.2092 | benign | -0.491 | Destabilizing | 0.995 | D | 0.477 | neutral | None | None | None | None | N |
| T/D | 0.2584 | likely_benign | 0.2816 | benign | 0.19 | Stabilizing | 0.007 | N | 0.193 | neutral | None | None | None | None | N |
| T/E | 0.2412 | likely_benign | 0.2595 | benign | 0.15 | Stabilizing | 0.007 | N | 0.211 | neutral | None | None | None | None | N |
| T/F | 0.1539 | likely_benign | 0.1557 | benign | -0.954 | Destabilizing | 0.807 | D | 0.555 | neutral | None | None | None | None | N |
| T/G | 0.1276 | likely_benign | 0.1357 | benign | -0.879 | Destabilizing | 0.329 | N | 0.379 | neutral | None | None | None | None | N |
| T/H | 0.1767 | likely_benign | 0.1776 | benign | -1.086 | Destabilizing | 0.893 | D | 0.505 | neutral | None | None | None | None | N |
| T/I | 0.1013 | likely_benign | 0.107 | benign | -0.289 | Destabilizing | 0.642 | D | 0.531 | neutral | N | 0.477083685 | None | None | N |
| T/K | 0.1674 | likely_benign | 0.1718 | benign | -0.576 | Destabilizing | 0.543 | D | 0.422 | neutral | None | None | None | None | N |
| T/L | 0.0766 | likely_benign | 0.0782 | benign | -0.289 | Destabilizing | 0.329 | N | 0.421 | neutral | None | None | None | None | N |
| T/M | 0.0819 | likely_benign | 0.0816 | benign | -0.098 | Destabilizing | 0.981 | D | 0.5 | neutral | None | None | None | None | N |
| T/N | 0.0848 | likely_benign | 0.0886 | benign | -0.436 | Destabilizing | 0.002 | N | 0.13 | neutral | N | 0.491700419 | None | None | N |
| T/P | 0.121 | likely_benign | 0.1248 | benign | -0.391 | Destabilizing | 0.784 | D | 0.523 | neutral | D | 0.524639557 | None | None | N |
| T/Q | 0.1823 | likely_benign | 0.1834 | benign | -0.632 | Destabilizing | 0.543 | D | 0.509 | neutral | None | None | None | None | N |
| T/R | 0.1508 | likely_benign | 0.154 | benign | -0.29 | Destabilizing | 0.704 | D | 0.502 | neutral | None | None | None | None | N |
| T/S | 0.073 | likely_benign | 0.0742 | benign | -0.736 | Destabilizing | 0.065 | N | 0.131 | neutral | N | 0.453046031 | None | None | N |
| T/V | 0.0829 | likely_benign | 0.0853 | benign | -0.391 | Destabilizing | 0.704 | D | 0.336 | neutral | None | None | None | None | N |
| T/W | 0.4025 | ambiguous | 0.4101 | ambiguous | -0.878 | Destabilizing | 0.985 | D | 0.491 | neutral | None | None | None | None | N |
| T/Y | 0.1795 | likely_benign | 0.1873 | benign | -0.642 | Destabilizing | 0.017 | N | 0.301 | 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.