Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9601 | 29026;29027;29028 | chr2:178707766;178707765;178707764 | chr2:179572493;179572492;179572491 |
| N2AB | 9284 | 28075;28076;28077 | chr2:178707766;178707765;178707764 | chr2:179572493;179572492;179572491 |
| N2A | 8357 | 25294;25295;25296 | chr2:178707766;178707765;178707764 | chr2:179572493;179572492;179572491 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/E | rs1436259872  |
-1.397 | 0.497 | None | 0.609 | 0.371 | 0.550005317886 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| V/E | rs1436259872 |
-1.397 | 0.497 | None | 0.609 | 0.371 | 0.550005317886 | gnomAD-4.0.0 | 2.73761E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59877E-06 | 0 | 0 |
| V/M | rs1310690220 |
-0.744 | 0.667 | None | 0.567 | 0.358 | 0.475112344478 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| V/M | rs1310690220 |
-0.744 | 0.667 | None | 0.567 | 0.358 | 0.475112344478 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.21507E-04 | 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 | 0.0742 | likely_benign | 0.0709 | benign | -1.631 | Destabilizing | None | N | 0.249 | neutral | None | None | None | None | N |
| V/C | 0.6342 | likely_pathogenic | 0.5931 | pathogenic | -1.213 | Destabilizing | 0.909 | D | 0.584 | neutral | None | None | None | None | N |
| V/D | 0.3791 | ambiguous | 0.3367 | benign | -1.473 | Destabilizing | 0.567 | D | 0.659 | neutral | None | None | None | None | N |
| V/E | 0.3295 | likely_benign | 0.2926 | benign | -1.451 | Destabilizing | 0.497 | N | 0.609 | neutral | None | None | None | None | N |
| V/F | 0.1931 | likely_benign | 0.1678 | benign | -1.241 | Destabilizing | 0.726 | D | 0.6 | neutral | None | None | None | None | N |
| V/G | 0.1326 | likely_benign | 0.1242 | benign | -1.976 | Destabilizing | 0.124 | N | 0.624 | neutral | None | None | None | None | N |
| V/H | 0.5623 | ambiguous | 0.5106 | ambiguous | -1.515 | Destabilizing | 0.968 | D | 0.65 | neutral | None | None | None | None | N |
| V/I | 0.0965 | likely_benign | 0.0863 | benign | -0.771 | Destabilizing | 0.157 | N | 0.52 | neutral | None | None | None | None | N |
| V/K | 0.3075 | likely_benign | 0.2869 | benign | -1.34 | Destabilizing | 0.567 | D | 0.609 | neutral | None | None | None | None | N |
| V/L | 0.1767 | likely_benign | 0.1589 | benign | -0.771 | Destabilizing | 0.055 | N | 0.556 | neutral | None | None | None | None | N |
| V/M | 0.1569 | likely_benign | 0.1305 | benign | -0.639 | Destabilizing | 0.667 | D | 0.567 | neutral | None | None | None | None | N |
| V/N | 0.2846 | likely_benign | 0.2636 | benign | -1.187 | Destabilizing | 0.567 | D | 0.667 | neutral | None | None | None | None | N |
| V/P | 0.6801 | likely_pathogenic | 0.6528 | pathogenic | -1.023 | Destabilizing | 0.567 | D | 0.62 | neutral | None | None | None | None | N |
| V/Q | 0.3147 | likely_benign | 0.2896 | benign | -1.335 | Destabilizing | 0.726 | D | 0.597 | neutral | None | None | None | None | N |
| V/R | 0.2629 | likely_benign | 0.2485 | benign | -0.855 | Destabilizing | 0.567 | D | 0.669 | neutral | None | None | None | None | N |
| V/S | 0.1283 | likely_benign | 0.1271 | benign | -1.758 | Destabilizing | 0.157 | N | 0.569 | neutral | None | None | None | None | N |
| V/T | 0.1284 | likely_benign | 0.1186 | benign | -1.622 | Destabilizing | 0.001 | N | 0.367 | neutral | None | None | None | None | N |
| V/W | 0.8522 | likely_pathogenic | 0.7775 | pathogenic | -1.444 | Destabilizing | 0.968 | D | 0.636 | neutral | None | None | None | None | N |
| V/Y | 0.5821 | likely_pathogenic | 0.5176 | ambiguous | -1.147 | Destabilizing | 0.726 | D | 0.586 | 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.