Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9269 | 28030;28031;28032 | chr2:178712025;178712024;178712023 | chr2:179576752;179576751;179576750 |
| N2AB | 8952 | 27079;27080;27081 | chr2:178712025;178712024;178712023 | chr2:179576752;179576751;179576750 |
| N2A | 8025 | 24298;24299;24300 | chr2:178712025;178712024;178712023 | chr2:179576752;179576751;179576750 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs2076732210  |
None | None | N | 0.159 | 0.128 | 0.0884992946249 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs2076732210 |
None | None | N | 0.159 | 0.128 | 0.0884992946249 | gnomAD-4.0.0 | 6.56953E-06 | None | None | None | None | I | None | 0 | 6.54879E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | rs766951571 |
-0.269 | None | N | 0.117 | 0.085 | 0.126345400529 | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.12E-05 | None | 6.54E-05 | None | 0 | 7.8E-06 | 0 |
| I/V | rs766951571 |
-0.269 | None | N | 0.117 | 0.085 | 0.126345400529 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/V | rs766951571 |
-0.269 | None | N | 0.117 | 0.085 | 0.126345400529 | gnomAD-4.0.0 | 1.53726E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.42389E-05 | None | 0 | 0 | 7.1793E-06 | 1.07227E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.0884 | likely_benign | 0.1203 | benign | -0.857 | Destabilizing | None | N | 0.203 | neutral | None | None | None | None | I |
| I/C | 0.2554 | likely_benign | 0.3802 | ambiguous | -0.618 | Destabilizing | 0.132 | N | 0.217 | neutral | None | None | None | None | I |
| I/D | 0.1896 | likely_benign | 0.2641 | benign | -0.279 | Destabilizing | 0.002 | N | 0.365 | neutral | None | None | None | None | I |
| I/E | 0.1743 | likely_benign | 0.2127 | benign | -0.369 | Destabilizing | 0.002 | N | 0.326 | neutral | None | None | None | None | I |
| I/F | 0.0921 | likely_benign | 0.1334 | benign | -0.84 | Destabilizing | 0.032 | N | 0.219 | neutral | N | 0.469060341 | None | None | I |
| I/G | 0.153 | likely_benign | 0.2319 | benign | -1.046 | Destabilizing | None | N | 0.175 | neutral | None | None | None | None | I |
| I/H | 0.1357 | likely_benign | 0.1882 | benign | -0.312 | Destabilizing | 0.132 | N | 0.375 | neutral | None | None | None | None | I |
| I/K | 0.096 | likely_benign | 0.11 | benign | -0.438 | Destabilizing | None | N | 0.175 | neutral | None | None | None | None | I |
| I/L | 0.0744 | likely_benign | 0.0891 | benign | -0.476 | Destabilizing | 0.001 | N | 0.165 | neutral | N | 0.42253583 | None | None | I |
| I/M | 0.0748 | likely_benign | 0.0906 | benign | -0.369 | Destabilizing | 0.032 | N | 0.233 | neutral | N | 0.469233699 | None | None | I |
| I/N | 0.0705 | likely_benign | 0.0903 | benign | -0.189 | Destabilizing | 0.001 | N | 0.365 | neutral | N | 0.487992818 | None | None | I |
| I/P | 0.2057 | likely_benign | 0.2817 | benign | -0.569 | Destabilizing | 0.009 | N | 0.317 | neutral | None | None | None | None | I |
| I/Q | 0.1291 | likely_benign | 0.1649 | benign | -0.445 | Destabilizing | 0.009 | N | 0.317 | neutral | None | None | None | None | I |
| I/R | 0.0718 | likely_benign | 0.0925 | benign | 0.162 | Stabilizing | None | N | 0.181 | neutral | None | None | None | None | I |
| I/S | 0.0646 | likely_benign | 0.084 | benign | -0.688 | Destabilizing | None | N | 0.136 | neutral | N | 0.449050428 | None | None | I |
| I/T | 0.0748 | likely_benign | 0.0985 | benign | -0.668 | Destabilizing | None | N | 0.159 | neutral | N | 0.419420954 | None | None | I |
| I/V | 0.0636 | likely_benign | 0.0782 | benign | -0.569 | Destabilizing | None | N | 0.117 | neutral | N | 0.395023942 | None | None | I |
| I/W | 0.3642 | ambiguous | 0.5541 | ambiguous | -0.836 | Destabilizing | 0.316 | N | 0.283 | neutral | None | None | None | None | I |
| I/Y | 0.1947 | likely_benign | 0.2622 | benign | -0.587 | Destabilizing | 0.041 | N | 0.345 | neutral | None | None | None | None | I |
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.