Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30076 | 90451;90452;90453 | chr2:178552674;178552673;178552672 | chr2:179417401;179417400;179417399 |
| N2AB | 28435 | 85528;85529;85530 | chr2:178552674;178552673;178552672 | chr2:179417401;179417400;179417399 |
| N2A | 27508 | 82747;82748;82749 | chr2:178552674;178552673;178552672 | chr2:179417401;179417400;179417399 |
| N2B | 21011 | 63256;63257;63258 | chr2:178552674;178552673;178552672 | chr2:179417401;179417400;179417399 |
| Novex-1 | 21136 | 63631;63632;63633 | chr2:178552674;178552673;178552672 | chr2:179417401;179417400;179417399 |
| Novex-2 | 21203 | 63832;63833;63834 | chr2:178552674;178552673;178552672 | chr2:179417401;179417400;179417399 |
| 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/M | rs201998913  |
-0.132 | 0.003 | N | 0.361 | 0.069 | None | gnomAD-2.1.1 | 3.57E-05 | None | None | None | None | N | None | 2.89232E-04 | 0 | None | 0 | 5.13E-05 | None | 0 | None | 4E-05 | 0 | 1.40331E-04 |
| T/M | rs201998913 |
-0.132 | 0.003 | N | 0.361 | 0.069 | None | gnomAD-3.1.2 | 1.1171E-04 | None | None | None | None | N | None | 3.13601E-04 | 0 | 0 | 0 | 0 | None | 2.82699E-04 | 0 | 1.47E-05 | 0 | 0 |
| T/M | rs201998913 |
-0.132 | 0.003 | N | 0.361 | 0.069 | None | gnomAD-4.0.0 | 3.34613E-05 | None | None | None | None | N | None | 3.06953E-04 | 0 | None | 0 | 0 | None | 1.87471E-04 | 0 | 1.44085E-05 | 0 | 3.20174E-05 |
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 | 0.068 | likely_benign | 0.0658 | benign | -0.404 | Destabilizing | None | N | 0.097 | neutral | N | 0.47580546 | None | None | N |
| T/C | 0.2635 | likely_benign | 0.2615 | benign | -0.332 | Destabilizing | 0.245 | N | 0.305 | neutral | None | None | None | None | N |
| T/D | 0.2148 | likely_benign | 0.208 | benign | 0.189 | Stabilizing | 0.009 | N | 0.381 | neutral | None | None | None | None | N |
| T/E | 0.1666 | likely_benign | 0.1587 | benign | 0.122 | Stabilizing | None | N | 0.173 | neutral | None | None | None | None | N |
| T/F | 0.1491 | likely_benign | 0.1398 | benign | -0.852 | Destabilizing | 0.044 | N | 0.367 | neutral | None | None | None | None | N |
| T/G | 0.1443 | likely_benign | 0.1419 | benign | -0.541 | Destabilizing | 0.009 | N | 0.379 | neutral | None | None | None | None | N |
| T/H | 0.1602 | likely_benign | 0.1553 | benign | -0.717 | Destabilizing | 0.245 | N | 0.355 | neutral | None | None | None | None | N |
| T/I | 0.0898 | likely_benign | 0.085 | benign | -0.16 | Destabilizing | None | N | 0.247 | neutral | None | None | None | None | N |
| T/K | 0.1487 | likely_benign | 0.1346 | benign | -0.395 | Destabilizing | 0.018 | N | 0.381 | neutral | N | 0.419797462 | None | None | N |
| T/L | 0.0725 | likely_benign | 0.0692 | benign | -0.16 | Destabilizing | 0.001 | N | 0.387 | neutral | None | None | None | None | N |
| T/M | 0.0739 | likely_benign | 0.0721 | benign | -0.12 | Destabilizing | 0.003 | N | 0.361 | neutral | N | 0.512035619 | None | None | N |
| T/N | 0.0731 | likely_benign | 0.0735 | benign | -0.162 | Destabilizing | None | N | 0.098 | neutral | None | None | None | None | N |
| T/P | 0.117 | likely_benign | 0.1025 | benign | -0.213 | Destabilizing | 0.033 | N | 0.329 | neutral | N | 0.516190645 | None | None | N |
| T/Q | 0.1483 | likely_benign | 0.1389 | benign | -0.365 | Destabilizing | 0.022 | N | 0.347 | neutral | None | None | None | None | N |
| T/R | 0.1448 | likely_benign | 0.1303 | benign | -0.087 | Destabilizing | 0.08 | N | 0.359 | neutral | N | 0.453718034 | None | None | N |
| T/S | 0.0798 | likely_benign | 0.0819 | benign | -0.389 | Destabilizing | None | N | 0.089 | neutral | N | 0.412658059 | None | None | N |
| T/V | 0.0817 | likely_benign | 0.0801 | benign | -0.213 | Destabilizing | None | N | 0.14 | neutral | None | None | None | None | N |
| T/W | 0.4263 | ambiguous | 0.3914 | ambiguous | -0.863 | Destabilizing | 0.788 | D | 0.365 | neutral | None | None | None | None | N |
| T/Y | 0.1725 | likely_benign | 0.165 | benign | -0.584 | Destabilizing | 0.245 | N | 0.395 | 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.