Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24473 | 73642;73643;73644 | chr2:178572715;178572714;178572713 | chr2:179437442;179437441;179437440 |
| N2AB | 22832 | 68719;68720;68721 | chr2:178572715;178572714;178572713 | chr2:179437442;179437441;179437440 |
| N2A | 21905 | 65938;65939;65940 | chr2:178572715;178572714;178572713 | chr2:179437442;179437441;179437440 |
| N2B | 15408 | 46447;46448;46449 | chr2:178572715;178572714;178572713 | chr2:179437442;179437441;179437440 |
| Novex-1 | 15533 | 46822;46823;46824 | chr2:178572715;178572714;178572713 | chr2:179437442;179437441;179437440 |
| Novex-2 | 15600 | 47023;47024;47025 | chr2:178572715;178572714;178572713 | chr2:179437442;179437441;179437440 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | rs763682152  |
-1.899 | 0.056 | N | 0.506 | 0.453 | 0.49376247819 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/D | rs763682152 |
-1.899 | 0.056 | N | 0.506 | 0.453 | 0.49376247819 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07297E-04 | 0 |
| A/D | rs763682152 |
-1.899 | 0.056 | N | 0.506 | 0.453 | 0.49376247819 | gnomAD-4.0.0 | 2.56336E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.68061E-05 | 0 |
| A/S | None | None | 0.805 | N | 0.497 | 0.277 | 0.414021929199 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4892 | ambiguous | 0.5431 | ambiguous | -0.821 | Destabilizing | 0.999 | D | 0.668 | neutral | None | None | None | None | N |
| A/D | 0.6935 | likely_pathogenic | 0.7174 | pathogenic | -0.518 | Destabilizing | 0.056 | N | 0.506 | neutral | N | 0.517168033 | None | None | N |
| A/E | 0.6607 | likely_pathogenic | 0.6931 | pathogenic | -0.586 | Destabilizing | 0.845 | D | 0.595 | neutral | None | None | None | None | N |
| A/F | 0.4896 | ambiguous | 0.5216 | ambiguous | -0.763 | Destabilizing | 0.996 | D | 0.69 | prob.neutral | None | None | None | None | N |
| A/G | 0.1986 | likely_benign | 0.2037 | benign | -0.726 | Destabilizing | 0.892 | D | 0.49 | neutral | N | 0.485376842 | None | None | N |
| A/H | 0.7441 | likely_pathogenic | 0.7734 | pathogenic | -0.834 | Destabilizing | 0.999 | D | 0.692 | prob.neutral | None | None | None | None | N |
| A/I | 0.3139 | likely_benign | 0.3488 | ambiguous | -0.185 | Destabilizing | 0.975 | D | 0.667 | neutral | None | None | None | None | N |
| A/K | 0.8453 | likely_pathogenic | 0.8674 | pathogenic | -0.944 | Destabilizing | 0.975 | D | 0.649 | neutral | None | None | None | None | N |
| A/L | 0.3518 | ambiguous | 0.3912 | ambiguous | -0.185 | Destabilizing | 0.916 | D | 0.594 | neutral | None | None | None | None | N |
| A/M | 0.3641 | ambiguous | 0.4044 | ambiguous | -0.315 | Destabilizing | 0.999 | D | 0.667 | neutral | None | None | None | None | N |
| A/N | 0.5574 | ambiguous | 0.5894 | pathogenic | -0.654 | Destabilizing | 0.95 | D | 0.667 | neutral | None | None | None | None | N |
| A/P | 0.68 | likely_pathogenic | 0.6881 | pathogenic | -0.26 | Destabilizing | 0.983 | D | 0.672 | neutral | D | 0.528524338 | None | None | N |
| A/Q | 0.6797 | likely_pathogenic | 0.7181 | pathogenic | -0.803 | Destabilizing | 0.987 | D | 0.66 | neutral | None | None | None | None | N |
| A/R | 0.8075 | likely_pathogenic | 0.8332 | pathogenic | -0.605 | Destabilizing | 0.987 | D | 0.672 | neutral | None | None | None | None | N |
| A/S | 0.1442 | likely_benign | 0.1463 | benign | -0.973 | Destabilizing | 0.805 | D | 0.497 | neutral | N | 0.509406125 | None | None | N |
| A/T | 0.1396 | likely_benign | 0.1435 | benign | -0.938 | Destabilizing | 0.204 | N | 0.393 | neutral | N | 0.508238457 | None | None | N |
| A/V | 0.1437 | likely_benign | 0.1549 | benign | -0.26 | Destabilizing | 0.892 | D | 0.528 | neutral | N | 0.495037087 | None | None | N |
| A/W | 0.8717 | likely_pathogenic | 0.8916 | pathogenic | -1.04 | Destabilizing | 0.999 | D | 0.71 | prob.delet. | None | None | None | None | N |
| A/Y | 0.5963 | likely_pathogenic | 0.6337 | pathogenic | -0.643 | Destabilizing | 0.996 | D | 0.695 | prob.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.