Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3872 | 11839;11840;11841 | chr2:178741619;178741618;178741617 | chr2:179606346;179606345;179606344 |
| N2AB | 3555 | 10888;10889;10890 | chr2:178741619;178741618;178741617 | chr2:179606346;179606345;179606344 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 3509 | 10750;10751;10752 | chr2:178741619;178741618;178741617 | chr2:179606346;179606345;179606344 |
| Novex-1 | 3634 | 11125;11126;11127 | chr2:178741619;178741618;178741617 | chr2:179606346;179606345;179606344 |
| Novex-2 | 3701 | 11326;11327;11328 | chr2:178741619;178741618;178741617 | chr2:179606346;179606345;179606344 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs751755895  |
None | None | N | 0.341 | 0.092 | None | gnomAD-4.0.0 | 1.3684E-06 | None | None | None | None | N | None | 2.98775E-05 | 0 | None | 0 | 0 | None | 1.87266E-05 | 0 | 0 | 0 | 0 |
| G/S | rs754936734 |
-1.218 | 0.004 | N | 0.3 | 0.052 | None | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 4.13E-05 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 7.82E-06 | 0 |
| G/S | rs754936734 |
-1.218 | 0.004 | N | 0.3 | 0.052 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 1.92976E-04 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/S | rs754936734 |
-1.218 | 0.004 | N | 0.3 | 0.052 | None | gnomAD-4.0.0 | 1.17745E-05 | None | None | None | None | N | None | 1.33515E-05 | 0 | None | 0 | 2.22906E-05 | None | 0 | 0 | 9.32372E-06 | 5.4904E-05 | 1.60123E-05 |
| G/V | rs751755895 |
-0.244 | None | N | 0.466 | 0.099 | None | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.13E-05 | 0 |
| G/V | rs751755895 |
-0.244 | None | N | 0.466 | 0.099 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 7.35E-05 | 0 | 0 |
| G/V | rs751755895 |
-0.244 | None | N | 0.466 | 0.099 | None | gnomAD-4.0.0 | 6.1969E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.476E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1727 | likely_benign | 0.1642 | benign | -0.264 | Destabilizing | 0.012 | N | 0.407 | neutral | N | 0.464450424 | None | None | N |
| G/C | 0.1802 | likely_benign | 0.2175 | benign | -0.626 | Destabilizing | 0.002 | N | 0.522 | neutral | D | 0.604976133 | None | None | N |
| G/D | 0.1635 | likely_benign | 0.1616 | benign | -0.744 | Destabilizing | None | N | 0.341 | neutral | N | 0.459444626 | None | None | N |
| G/E | 0.187 | likely_benign | 0.1928 | benign | -0.896 | Destabilizing | 0.038 | N | 0.489 | neutral | None | None | None | None | N |
| G/F | 0.6163 | likely_pathogenic | 0.6022 | pathogenic | -0.998 | Destabilizing | 0.214 | N | 0.558 | neutral | None | None | None | None | N |
| G/H | 0.2983 | likely_benign | 0.3163 | benign | -0.568 | Destabilizing | 0.356 | N | 0.504 | neutral | None | None | None | None | N |
| G/I | 0.3424 | ambiguous | 0.3286 | benign | -0.354 | Destabilizing | 0.12 | N | 0.571 | neutral | None | None | None | None | N |
| G/K | 0.2457 | likely_benign | 0.2523 | benign | -0.816 | Destabilizing | 0.001 | N | 0.421 | neutral | None | None | None | None | N |
| G/L | 0.5186 | ambiguous | 0.4916 | ambiguous | -0.354 | Destabilizing | 0.038 | N | 0.523 | neutral | None | None | None | None | N |
| G/M | 0.5208 | ambiguous | 0.4997 | ambiguous | -0.411 | Destabilizing | 0.356 | N | 0.529 | neutral | None | None | None | None | N |
| G/N | 0.2509 | likely_benign | 0.226 | benign | -0.339 | Destabilizing | 0.038 | N | 0.517 | neutral | None | None | None | None | N |
| G/P | 0.8524 | likely_pathogenic | 0.8491 | pathogenic | -0.291 | Destabilizing | 0.356 | N | 0.533 | neutral | None | None | None | None | N |
| G/Q | 0.2536 | likely_benign | 0.2652 | benign | -0.63 | Destabilizing | 0.214 | N | 0.539 | neutral | None | None | None | None | N |
| G/R | 0.1443 | likely_benign | 0.1556 | benign | -0.358 | Destabilizing | None | N | 0.34 | neutral | N | 0.451343857 | None | None | N |
| G/S | 0.1047 | likely_benign | 0.0944 | benign | -0.44 | Destabilizing | 0.004 | N | 0.3 | neutral | N | 0.448967773 | None | None | N |
| G/T | 0.219 | likely_benign | 0.2008 | benign | -0.529 | Destabilizing | 0.038 | N | 0.501 | neutral | None | None | None | None | N |
| G/V | 0.2462 | likely_benign | 0.2362 | benign | -0.291 | Destabilizing | None | N | 0.466 | neutral | N | 0.489107889 | None | None | N |
| G/W | 0.4036 | ambiguous | 0.4405 | ambiguous | -1.188 | Destabilizing | 0.864 | D | 0.519 | neutral | None | None | None | None | N |
| G/Y | 0.4174 | ambiguous | 0.4201 | ambiguous | -0.824 | Destabilizing | 0.356 | N | 0.549 | 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.