Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17127 | 51604;51605;51606 | chr2:178610147;178610146;178610145 | chr2:179474874;179474873;179474872 |
| N2AB | 15486 | 46681;46682;46683 | chr2:178610147;178610146;178610145 | chr2:179474874;179474873;179474872 |
| N2A | 14559 | 43900;43901;43902 | chr2:178610147;178610146;178610145 | chr2:179474874;179474873;179474872 |
| N2B | 8062 | 24409;24410;24411 | chr2:178610147;178610146;178610145 | chr2:179474874;179474873;179474872 |
| Novex-1 | 8187 | 24784;24785;24786 | chr2:178610147;178610146;178610145 | chr2:179474874;179474873;179474872 |
| Novex-2 | 8254 | 24985;24986;24987 | chr2:178610147;178610146;178610145 | chr2:179474874;179474873;179474872 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/F | rs397517603  |
-0.615 | 0.117 | N | 0.434 | 0.125 | 0.398727352345 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| V/F | rs397517603 |
-0.615 | 0.117 | N | 0.434 | 0.125 | 0.398727352345 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.42E-05 | 0 | 0 |
| V/F | rs397517603 |
-0.615 | 0.117 | N | 0.434 | 0.125 | 0.398727352345 | gnomAD-4.0.0 | 2.91409E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.73094E-05 | 0 | 4.80692E-05 |
| V/L | rs397517603 |
-0.03 | 0.002 | N | 0.295 | 0.103 | 0.139678290688 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.61E-05 | None | 0 | None | 0 | 0 | 0 |
| V/L | rs397517603 |
-0.03 | 0.002 | N | 0.295 | 0.103 | 0.139678290688 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 3.89712E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs397517603 |
-0.03 | 0.002 | N | 0.295 | 0.103 | 0.139678290688 | gnomAD-4.0.0 | 6.8202E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.46063E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.266 | likely_benign | 0.2917 | benign | -0.559 | Destabilizing | 0.052 | N | 0.319 | neutral | N | 0.460105289 | None | None | I |
| V/C | 0.7258 | likely_pathogenic | 0.7476 | pathogenic | -0.784 | Destabilizing | 0.791 | D | 0.453 | neutral | None | None | None | None | I |
| V/D | 0.8469 | likely_pathogenic | 0.8656 | pathogenic | -0.463 | Destabilizing | 0.484 | N | 0.575 | neutral | N | 0.46930487 | None | None | I |
| V/E | 0.7627 | likely_pathogenic | 0.7643 | pathogenic | -0.572 | Destabilizing | 0.555 | D | 0.557 | neutral | None | None | None | None | I |
| V/F | 0.2467 | likely_benign | 0.2809 | benign | -0.717 | Destabilizing | 0.117 | N | 0.434 | neutral | N | 0.474557453 | None | None | I |
| V/G | 0.5642 | likely_pathogenic | 0.6207 | pathogenic | -0.688 | Destabilizing | 0.211 | N | 0.547 | neutral | N | 0.464416571 | None | None | I |
| V/H | 0.7985 | likely_pathogenic | 0.8374 | pathogenic | -0.117 | Destabilizing | 0.935 | D | 0.555 | neutral | None | None | None | None | I |
| V/I | 0.0695 | likely_benign | 0.0681 | benign | -0.369 | Destabilizing | None | N | 0.146 | neutral | N | 0.426110145 | None | None | I |
| V/K | 0.8104 | likely_pathogenic | 0.8331 | pathogenic | -0.57 | Destabilizing | 0.555 | D | 0.559 | neutral | None | None | None | None | I |
| V/L | 0.2548 | likely_benign | 0.2778 | benign | -0.369 | Destabilizing | 0.002 | N | 0.295 | neutral | N | 0.495316727 | None | None | I |
| V/M | 0.2272 | likely_benign | 0.2556 | benign | -0.483 | Destabilizing | 0.38 | N | 0.383 | neutral | None | None | None | None | I |
| V/N | 0.5923 | likely_pathogenic | 0.6292 | pathogenic | -0.391 | Destabilizing | 0.791 | D | 0.582 | neutral | None | None | None | None | I |
| V/P | 0.8962 | likely_pathogenic | 0.9007 | pathogenic | -0.398 | Destabilizing | 0.791 | D | 0.569 | neutral | None | None | None | None | I |
| V/Q | 0.7337 | likely_pathogenic | 0.7527 | pathogenic | -0.64 | Destabilizing | 0.791 | D | 0.567 | neutral | None | None | None | None | I |
| V/R | 0.7006 | likely_pathogenic | 0.7343 | pathogenic | 0.017 | Stabilizing | 0.555 | D | 0.576 | neutral | None | None | None | None | I |
| V/S | 0.4611 | ambiguous | 0.5002 | ambiguous | -0.741 | Destabilizing | 0.262 | N | 0.539 | neutral | None | None | None | None | I |
| V/T | 0.2755 | likely_benign | 0.3088 | benign | -0.751 | Destabilizing | 0.149 | N | 0.23 | neutral | None | None | None | None | I |
| V/W | 0.8671 | likely_pathogenic | 0.9073 | pathogenic | -0.774 | Destabilizing | 0.935 | D | 0.601 | neutral | None | None | None | None | I |
| V/Y | 0.6498 | likely_pathogenic | 0.7019 | pathogenic | -0.499 | Destabilizing | 0.555 | D | 0.476 | neutral | 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.