Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16845 | 50758;50759;50760 | chr2:178611776;178611775;178611774 | chr2:179476503;179476502;179476501 |
| N2AB | 15204 | 45835;45836;45837 | chr2:178611776;178611775;178611774 | chr2:179476503;179476502;179476501 |
| N2A | 14277 | 43054;43055;43056 | chr2:178611776;178611775;178611774 | chr2:179476503;179476502;179476501 |
| N2B | 7780 | 23563;23564;23565 | chr2:178611776;178611775;178611774 | chr2:179476503;179476502;179476501 |
| Novex-1 | 7905 | 23938;23939;23940 | chr2:178611776;178611775;178611774 | chr2:179476503;179476502;179476501 |
| Novex-2 | 7972 | 24139;24140;24141 | chr2:178611776;178611775;178611774 | chr2:179476503;179476502;179476501 |
| 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/P | rs761406700  |
-0.311 | 0.052 | N | 0.496 | 0.105 | 0.0297737177859 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.3E-05 | None | 0 | 0 | 0 |
| S/P | rs761406700 |
-0.311 | 0.052 | N | 0.496 | 0.105 | 0.0297737177859 | gnomAD-4.0.0 | 1.59496E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.4386E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0698 | likely_benign | 0.0547 | benign | -0.511 | Destabilizing | None | N | 0.048 | neutral | N | 0.43803603 | None | None | N |
| S/C | 0.0817 | likely_benign | 0.0668 | benign | -0.441 | Destabilizing | 0.162 | N | 0.321 | neutral | N | 0.43936438 | None | None | N |
| S/D | 0.3753 | ambiguous | 0.2646 | benign | 0.375 | Stabilizing | 0.007 | N | 0.177 | neutral | None | None | None | None | N |
| S/E | 0.4142 | ambiguous | 0.3051 | benign | 0.318 | Stabilizing | None | N | 0.109 | neutral | None | None | None | None | N |
| S/F | 0.1754 | likely_benign | 0.1317 | benign | -0.9 | Destabilizing | 0.162 | N | 0.644 | neutral | N | 0.425148008 | None | None | N |
| S/G | 0.1074 | likely_benign | 0.0857 | benign | -0.679 | Destabilizing | 0.007 | N | 0.242 | neutral | None | None | None | None | N |
| S/H | 0.2011 | likely_benign | 0.1427 | benign | -1.098 | Destabilizing | None | N | 0.283 | neutral | None | None | None | None | N |
| S/I | 0.1236 | likely_benign | 0.0921 | benign | -0.19 | Destabilizing | 0.007 | N | 0.359 | neutral | None | None | None | None | N |
| S/K | 0.3874 | ambiguous | 0.2223 | benign | -0.448 | Destabilizing | None | N | 0.107 | neutral | None | None | None | None | N |
| S/L | 0.0847 | likely_benign | 0.0669 | benign | -0.19 | Destabilizing | 0.003 | N | 0.387 | neutral | None | None | None | None | N |
| S/M | 0.146 | likely_benign | 0.1094 | benign | -0.036 | Destabilizing | 0.204 | N | 0.317 | neutral | None | None | None | None | N |
| S/N | 0.0976 | likely_benign | 0.0796 | benign | -0.265 | Destabilizing | 0.015 | N | 0.258 | neutral | None | None | None | None | N |
| S/P | 0.1506 | likely_benign | 0.1052 | benign | -0.266 | Destabilizing | 0.052 | N | 0.496 | neutral | N | 0.470795184 | None | None | N |
| S/Q | 0.3045 | likely_benign | 0.2079 | benign | -0.471 | Destabilizing | 0.018 | N | 0.297 | neutral | None | None | None | None | N |
| S/R | 0.3706 | ambiguous | 0.2166 | benign | -0.286 | Destabilizing | 0.018 | N | 0.424 | neutral | None | None | None | None | N |
| S/T | 0.061 | likely_benign | 0.0519 | benign | -0.402 | Destabilizing | None | N | 0.069 | neutral | N | 0.319732842 | None | None | N |
| S/V | 0.1252 | likely_benign | 0.0919 | benign | -0.266 | Destabilizing | None | N | 0.282 | neutral | None | None | None | None | N |
| S/W | 0.3418 | ambiguous | 0.2615 | benign | -0.849 | Destabilizing | 0.747 | D | 0.564 | neutral | None | None | None | None | N |
| S/Y | 0.1694 | likely_benign | 0.1362 | benign | -0.584 | Destabilizing | 0.026 | N | 0.627 | neutral | N | 0.469076569 | 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.