Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9194 | 27805;27806;27807 | chr2:178712342;178712341;178712340 | chr2:179577069;179577068;179577067 |
| N2AB | 8877 | 26854;26855;26856 | chr2:178712342;178712341;178712340 | chr2:179577069;179577068;179577067 |
| N2A | 7950 | 24073;24074;24075 | chr2:178712342;178712341;178712340 | chr2:179577069;179577068;179577067 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | rs766272800  |
-0.598 | 0.454 | N | 0.407 | 0.184 | 0.330069100803 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.53594E-04 | None | 0 | None | 0 | 0 | 0 |
| S/A | rs766272800 |
-0.598 | 0.454 | N | 0.407 | 0.184 | 0.330069100803 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.85356E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/A | rs766272800 |
-0.598 | 0.454 | N | 0.407 | 0.184 | 0.330069100803 | gnomAD-4.0.0 | 4.33808E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.55951E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | None | None | 0.966 | N | 0.595 | 0.379 | 0.524218619521 | 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 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.077 | likely_benign | 0.0819 | benign | -0.827 | Destabilizing | 0.454 | N | 0.407 | neutral | N | 0.505142224 | None | None | N |
| S/C | 0.1217 | likely_benign | 0.1157 | benign | -0.325 | Destabilizing | 0.997 | D | 0.532 | neutral | D | 0.525045299 | None | None | N |
| S/D | 0.3023 | likely_benign | 0.2447 | benign | -0.144 | Destabilizing | 0.728 | D | 0.452 | neutral | None | None | None | None | N |
| S/E | 0.3998 | ambiguous | 0.3562 | ambiguous | -0.088 | Destabilizing | 0.842 | D | 0.461 | neutral | None | None | None | None | N |
| S/F | 0.1196 | likely_benign | 0.1235 | benign | -0.827 | Destabilizing | 0.966 | D | 0.595 | neutral | N | 0.48832981 | None | None | N |
| S/G | 0.1163 | likely_benign | 0.1042 | benign | -1.133 | Destabilizing | 0.525 | D | 0.489 | neutral | None | None | None | None | N |
| S/H | 0.2515 | likely_benign | 0.2261 | benign | -1.43 | Destabilizing | 0.974 | D | 0.546 | neutral | None | None | None | None | N |
| S/I | 0.1007 | likely_benign | 0.1006 | benign | -0.098 | Destabilizing | 0.949 | D | 0.594 | neutral | None | None | None | None | N |
| S/K | 0.5337 | ambiguous | 0.4608 | ambiguous | -0.513 | Destabilizing | 0.525 | D | 0.468 | neutral | None | None | None | None | N |
| S/L | 0.09 | likely_benign | 0.0964 | benign | -0.098 | Destabilizing | 0.728 | D | 0.539 | neutral | None | None | None | None | N |
| S/M | 0.165 | likely_benign | 0.1787 | benign | 0.066 | Stabilizing | 0.991 | D | 0.544 | neutral | None | None | None | None | N |
| S/N | 0.1077 | likely_benign | 0.0929 | benign | -0.582 | Destabilizing | 0.016 | N | 0.181 | neutral | None | None | None | None | N |
| S/P | 0.7842 | likely_pathogenic | 0.7245 | pathogenic | -0.307 | Destabilizing | 0.966 | D | 0.562 | neutral | D | 0.52453832 | None | None | N |
| S/Q | 0.3966 | ambiguous | 0.36 | ambiguous | -0.585 | Destabilizing | 0.949 | D | 0.498 | neutral | None | None | None | None | N |
| S/R | 0.4071 | ambiguous | 0.3437 | ambiguous | -0.529 | Destabilizing | 0.016 | N | 0.3 | neutral | None | None | None | None | N |
| S/T | 0.0743 | likely_benign | 0.0762 | benign | -0.568 | Destabilizing | 0.022 | N | 0.141 | neutral | N | 0.451112951 | None | None | N |
| S/V | 0.1229 | likely_benign | 0.133 | benign | -0.307 | Destabilizing | 0.728 | D | 0.542 | neutral | None | None | None | None | N |
| S/W | 0.3097 | likely_benign | 0.2905 | benign | -0.858 | Destabilizing | 0.998 | D | 0.665 | neutral | None | None | None | None | N |
| S/Y | 0.1309 | likely_benign | 0.126 | benign | -0.566 | Destabilizing | 0.989 | D | 0.597 | neutral | D | 0.533926336 | 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.