Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20113 | 60562;60563;60564 | chr2:178591388;178591387;178591386 | chr2:179456115;179456114;179456113 |
| N2AB | 18472 | 55639;55640;55641 | chr2:178591388;178591387;178591386 | chr2:179456115;179456114;179456113 |
| N2A | 17545 | 52858;52859;52860 | chr2:178591388;178591387;178591386 | chr2:179456115;179456114;179456113 |
| N2B | 11048 | 33367;33368;33369 | chr2:178591388;178591387;178591386 | chr2:179456115;179456114;179456113 |
| Novex-1 | 11173 | 33742;33743;33744 | chr2:178591388;178591387;178591386 | chr2:179456115;179456114;179456113 |
| Novex-2 | 11240 | 33943;33944;33945 | chr2:178591388;178591387;178591386 | chr2:179456115;179456114;179456113 |
| 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/I | rs766111834  |
-0.016 | 0.101 | N | 0.5 | 0.088 | 0.201204373187 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 5.81E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs766111834 |
-0.016 | 0.101 | N | 0.5 | 0.088 | 0.201204373187 | gnomAD-4.0.0 | 4.77876E-06 | None | None | None | None | N | None | 0 | 6.86593E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/K | rs766111834 |
-0.531 | 0.213 | N | 0.529 | 0.124 | 0.201204373187 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| T/K | rs766111834 |
-0.531 | 0.213 | N | 0.529 | 0.124 | 0.201204373187 | gnomAD-4.0.0 | 3.18584E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86105E-06 | 1.43484E-05 | 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 | 0.0764 | likely_benign | 0.074 | benign | -1.184 | Destabilizing | 0.001 | N | 0.214 | neutral | N | 0.508541449 | None | None | N |
| T/C | 0.2607 | likely_benign | 0.2477 | benign | -0.981 | Destabilizing | 0.836 | D | 0.573 | neutral | None | None | None | None | N |
| T/D | 0.3412 | ambiguous | 0.351 | ambiguous | -1.067 | Destabilizing | 0.418 | N | 0.549 | neutral | None | None | None | None | N |
| T/E | 0.2005 | likely_benign | 0.2251 | benign | -0.989 | Destabilizing | 0.418 | N | 0.521 | neutral | None | None | None | None | N |
| T/F | 0.1325 | likely_benign | 0.1387 | benign | -1.262 | Destabilizing | 0.716 | D | 0.603 | neutral | None | None | None | None | N |
| T/G | 0.1945 | likely_benign | 0.1913 | benign | -1.482 | Destabilizing | 0.129 | N | 0.533 | neutral | None | None | None | None | N |
| T/H | 0.1775 | likely_benign | 0.1906 | benign | -1.747 | Destabilizing | 0.951 | D | 0.597 | neutral | None | None | None | None | N |
| T/I | 0.0967 | likely_benign | 0.102 | benign | -0.45 | Destabilizing | 0.101 | N | 0.5 | neutral | N | 0.505866503 | None | None | N |
| T/K | 0.1464 | likely_benign | 0.1718 | benign | -0.687 | Destabilizing | 0.213 | N | 0.529 | neutral | N | 0.481624206 | None | None | N |
| T/L | 0.0627 | likely_benign | 0.0673 | benign | -0.45 | Destabilizing | 0.049 | N | 0.471 | neutral | None | None | None | None | N |
| T/M | 0.0604 | likely_benign | 0.0625 | benign | -0.198 | Destabilizing | 0.022 | N | 0.405 | neutral | None | None | None | None | N |
| T/N | 0.1097 | likely_benign | 0.1107 | benign | -0.97 | Destabilizing | 0.264 | N | 0.536 | neutral | None | None | None | None | N |
| T/P | 0.8153 | likely_pathogenic | 0.8341 | pathogenic | -0.665 | Destabilizing | 0.794 | D | 0.587 | neutral | N | 0.488951336 | None | None | N |
| T/Q | 0.1502 | likely_benign | 0.1649 | benign | -1.097 | Destabilizing | 0.716 | D | 0.596 | neutral | None | None | None | None | N |
| T/R | 0.1251 | likely_benign | 0.1531 | benign | -0.568 | Destabilizing | 0.655 | D | 0.592 | neutral | N | 0.454053603 | None | None | N |
| T/S | 0.0886 | likely_benign | 0.084 | benign | -1.24 | Destabilizing | 0.003 | N | 0.227 | neutral | N | 0.453245526 | None | None | N |
| T/V | 0.0792 | likely_benign | 0.0859 | benign | -0.665 | Destabilizing | None | N | 0.213 | neutral | None | None | None | None | N |
| T/W | 0.4467 | ambiguous | 0.4473 | ambiguous | -1.212 | Destabilizing | 0.983 | D | 0.621 | neutral | None | None | None | None | N |
| T/Y | 0.1902 | likely_benign | 0.1976 | benign | -0.907 | Destabilizing | 0.836 | D | 0.596 | 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.