Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13718 | 41377;41378;41379 | chr2:178636575;178636574;178636573 | chr2:179501302;179501301;179501300 |
| N2AB | 12077 | 36454;36455;36456 | chr2:178636575;178636574;178636573 | chr2:179501302;179501301;179501300 |
| N2A | 11150 | 33673;33674;33675 | chr2:178636575;178636574;178636573 | chr2:179501302;179501301;179501300 |
| N2B | 4653 | 14182;14183;14184 | chr2:178636575;178636574;178636573 | chr2:179501302;179501301;179501300 |
| Novex-1 | 4778 | 14557;14558;14559 | chr2:178636575;178636574;178636573 | chr2:179501302;179501301;179501300 |
| Novex-2 | 4845 | 14758;14759;14760 | chr2:178636575;178636574;178636573 | chr2:179501302;179501301;179501300 |
| 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/A | rs562561380  |
-1.016 | 0.012 | D | 0.463 | 0.119 | 0.269111216191 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06868E-04 | 0 |
| T/A | rs562561380 |
-1.016 | 0.012 | D | 0.463 | 0.119 | 0.269111216191 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| T/A | rs562561380 |
-1.016 | 0.012 | D | 0.463 | 0.119 | 0.269111216191 | gnomAD-4.0.0 | 6.57004E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| T/S | rs562561380 |
None | None | N | 0.296 | 0.112 | 0.162503812791 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0897 | likely_benign | 0.1227 | benign | -1.017 | Destabilizing | 0.012 | N | 0.463 | neutral | D | 0.547080895 | None | None | N |
| T/C | 0.551 | ambiguous | 0.7157 | pathogenic | -0.529 | Destabilizing | 0.824 | D | 0.617 | neutral | None | None | None | None | N |
| T/D | 0.702 | likely_pathogenic | 0.8404 | pathogenic | -0.704 | Destabilizing | 0.081 | N | 0.661 | neutral | None | None | None | None | N |
| T/E | 0.6511 | likely_pathogenic | 0.7911 | pathogenic | -0.609 | Destabilizing | 0.081 | N | 0.659 | neutral | None | None | None | None | N |
| T/F | 0.4027 | ambiguous | 0.6642 | pathogenic | -0.719 | Destabilizing | 0.555 | D | 0.615 | neutral | None | None | None | None | N |
| T/G | 0.1655 | likely_benign | 0.2023 | benign | -1.378 | Destabilizing | None | N | 0.502 | neutral | None | None | None | None | N |
| T/H | 0.4595 | ambiguous | 0.6116 | pathogenic | -1.551 | Destabilizing | 0.001 | N | 0.553 | neutral | None | None | None | None | N |
| T/I | 0.3299 | likely_benign | 0.5315 | ambiguous | -0.105 | Destabilizing | 0.317 | N | 0.651 | neutral | N | 0.510114669 | None | None | N |
| T/K | 0.6507 | likely_pathogenic | 0.8009 | pathogenic | -0.866 | Destabilizing | 0.081 | N | 0.656 | neutral | None | None | None | None | N |
| T/L | 0.1712 | likely_benign | 0.3175 | benign | -0.105 | Destabilizing | 0.149 | N | 0.663 | neutral | None | None | None | None | N |
| T/M | 0.1531 | likely_benign | 0.2199 | benign | 0.109 | Stabilizing | 0.791 | D | 0.625 | neutral | None | None | None | None | N |
| T/N | 0.1749 | likely_benign | 0.2506 | benign | -1.048 | Destabilizing | 0.062 | N | 0.642 | neutral | D | 0.566062607 | None | None | N |
| T/P | 0.859 | likely_pathogenic | 0.9143 | pathogenic | -0.376 | Destabilizing | 0.317 | N | 0.647 | neutral | D | 0.713966795 | None | None | N |
| T/Q | 0.4275 | ambiguous | 0.5419 | ambiguous | -0.999 | Destabilizing | 0.38 | N | 0.649 | neutral | None | None | None | None | N |
| T/R | 0.5759 | likely_pathogenic | 0.7741 | pathogenic | -0.823 | Destabilizing | 0.38 | N | 0.651 | neutral | None | None | None | None | N |
| T/S | 0.0691 | likely_benign | 0.0851 | benign | -1.312 | Destabilizing | None | N | 0.296 | neutral | N | 0.490874574 | None | None | N |
| T/V | 0.2054 | likely_benign | 0.3574 | ambiguous | -0.376 | Destabilizing | 0.149 | N | 0.635 | neutral | None | None | None | None | N |
| T/W | 0.8171 | likely_pathogenic | 0.9214 | pathogenic | -0.752 | Destabilizing | 0.935 | D | 0.642 | neutral | None | None | None | None | N |
| T/Y | 0.4616 | ambiguous | 0.673 | pathogenic | -0.505 | Destabilizing | 0.38 | N | 0.631 | 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.