Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7374 | 22345;22346;22347 | chr2:178722779;178722778;178722777 | chr2:179587506;179587505;179587504 |
| N2AB | 7057 | 21394;21395;21396 | chr2:178722779;178722778;178722777 | chr2:179587506;179587505;179587504 |
| N2A | 6130 | 18613;18614;18615 | chr2:178722779;178722778;178722777 | chr2:179587506;179587505;179587504 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | 0.01 | N | 0.071 | 0.135 | 0.197625483188 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
| T/I | rs879022559  |
0.048 | 0.642 | N | 0.338 | 0.268 | None | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 4.14E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.82E-06 | 0 |
| T/I | rs879022559 |
0.048 | 0.642 | N | 0.338 | 0.268 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs879022559 |
0.048 | 0.642 | N | 0.338 | 0.268 | None | gnomAD-4.0.0 | 2.47957E-06 | None | None | None | None | N | None | 4.00588E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47778E-07 | 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 | 0.0823 | likely_benign | 0.0998 | benign | -0.433 | Destabilizing | 0.01 | N | 0.071 | neutral | N | 0.473011163 | None | None | N |
| T/C | 0.4656 | ambiguous | 0.5627 | ambiguous | -0.312 | Destabilizing | 0.981 | D | 0.321 | neutral | None | None | None | None | N |
| T/D | 0.3694 | ambiguous | 0.5062 | ambiguous | 0.365 | Stabilizing | 0.495 | N | 0.31 | neutral | None | None | None | None | N |
| T/E | 0.2469 | likely_benign | 0.3339 | benign | 0.311 | Stabilizing | 0.329 | N | 0.319 | neutral | None | None | None | None | N |
| T/F | 0.2485 | likely_benign | 0.3631 | ambiguous | -0.834 | Destabilizing | 0.007 | N | 0.233 | neutral | None | None | None | None | N |
| T/G | 0.2499 | likely_benign | 0.3174 | benign | -0.591 | Destabilizing | 0.329 | N | 0.258 | neutral | None | None | None | None | N |
| T/H | 0.196 | likely_benign | 0.2553 | benign | -0.79 | Destabilizing | 0.944 | D | 0.389 | neutral | None | None | None | None | N |
| T/I | 0.1562 | likely_benign | 0.239 | benign | -0.132 | Destabilizing | 0.642 | D | 0.338 | neutral | N | 0.479803849 | None | None | N |
| T/K | 0.1191 | likely_benign | 0.1568 | benign | -0.353 | Destabilizing | 0.002 | N | 0.126 | neutral | N | 0.437511723 | None | None | N |
| T/L | 0.104 | likely_benign | 0.1294 | benign | -0.132 | Destabilizing | 0.329 | N | 0.321 | neutral | None | None | None | None | N |
| T/M | 0.0958 | likely_benign | 0.1152 | benign | -0.078 | Destabilizing | 0.981 | D | 0.314 | neutral | None | None | None | None | N |
| T/N | 0.1242 | likely_benign | 0.1568 | benign | -0.189 | Destabilizing | 0.704 | D | 0.126 | neutral | None | None | None | None | N |
| T/P | 0.2986 | likely_benign | 0.3954 | ambiguous | -0.202 | Destabilizing | 0.784 | D | 0.334 | neutral | N | 0.478457055 | None | None | N |
| T/Q | 0.1504 | likely_benign | 0.185 | benign | -0.354 | Destabilizing | 0.085 | N | 0.255 | neutral | None | None | None | None | N |
| T/R | 0.0917 | likely_benign | 0.1244 | benign | -0.096 | Destabilizing | 0.473 | N | 0.325 | neutral | N | 0.468258704 | None | None | N |
| T/S | 0.1015 | likely_benign | 0.1205 | benign | -0.442 | Destabilizing | 0.003 | N | 0.068 | neutral | N | 0.447632716 | None | None | N |
| T/V | 0.1361 | likely_benign | 0.1847 | benign | -0.202 | Destabilizing | 0.495 | N | 0.168 | neutral | None | None | None | None | N |
| T/W | 0.4964 | ambiguous | 0.6349 | pathogenic | -0.841 | Destabilizing | 0.007 | N | 0.205 | neutral | None | None | None | None | N |
| T/Y | 0.2462 | likely_benign | 0.3403 | ambiguous | -0.56 | Destabilizing | 0.543 | D | 0.392 | 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.