Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4006 | 12241;12242;12243 | chr2:178741217;178741216;178741215 | chr2:179605944;179605943;179605942 |
| N2AB | 3689 | 11290;11291;11292 | chr2:178741217;178741216;178741215 | chr2:179605944;179605943;179605942 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 3643 | 11152;11153;11154 | chr2:178741217;178741216;178741215 | chr2:179605944;179605943;179605942 |
| Novex-1 | 3768 | 11527;11528;11529 | chr2:178741217;178741216;178741215 | chr2:179605944;179605943;179605942 |
| Novex-2 | 3835 | 11728;11729;11730 | chr2:178741217;178741216;178741215 | chr2:179605944;179605943;179605942 |
| 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/G | rs1391193598  |
None | None | N | 0.11 | 0.099 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.41E-05 | 0 | 1.47E-05 | 0 | 0 |
| S/G | rs1391193598 |
None | None | N | 0.11 | 0.099 | None | gnomAD-4.0.0 | 3.04478E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.17431E-05 | 0 | 2.40982E-06 | 0 | 0 |
| S/N | rs1366799021 |
-1.096 | 0.117 | D | 0.502 | 0.239 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11669E-04 | None | 0 | None | 0 | 8.9E-06 | 0 |
| S/N | rs1366799021 |
-1.096 | 0.117 | D | 0.502 | 0.239 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/N | rs1366799021 |
-1.096 | 0.117 | D | 0.502 | 0.239 | None | gnomAD-4.0.0 | 5.1269E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.85013E-05 | None | 0 | 0 | 2.39279E-06 | 1.33994E-05 | 0 |
| S/R | rs780375598 |
-0.637 | 0.317 | D | 0.563 | 0.142 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.96E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/R | rs780375598 |
-0.637 | 0.317 | D | 0.563 | 0.142 | None | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1207 | likely_benign | 0.1118 | benign | -0.766 | Destabilizing | None | N | 0.129 | neutral | None | None | None | None | N |
| S/C | 0.1469 | likely_benign | 0.1334 | benign | -0.587 | Destabilizing | 0.001 | N | 0.317 | neutral | D | 0.60235822 | None | None | N |
| S/D | 0.4483 | ambiguous | 0.4466 | ambiguous | -0.428 | Destabilizing | 0.149 | N | 0.489 | neutral | None | None | None | None | N |
| S/E | 0.5992 | likely_pathogenic | 0.5704 | pathogenic | -0.405 | Destabilizing | 0.149 | N | 0.488 | neutral | None | None | None | None | N |
| S/F | 0.5283 | ambiguous | 0.5143 | ambiguous | -0.879 | Destabilizing | 0.555 | D | 0.549 | neutral | None | None | None | None | N |
| S/G | 0.1035 | likely_benign | 0.0862 | benign | -1.04 | Destabilizing | None | N | 0.11 | neutral | N | 0.51796114 | None | None | N |
| S/H | 0.448 | ambiguous | 0.4438 | ambiguous | -1.485 | Destabilizing | 0.935 | D | 0.532 | neutral | None | None | None | None | N |
| S/I | 0.304 | likely_benign | 0.2957 | benign | -0.14 | Destabilizing | 0.317 | N | 0.555 | neutral | D | 0.612106042 | None | None | N |
| S/K | 0.6646 | likely_pathogenic | 0.6481 | pathogenic | -0.71 | Destabilizing | 0.149 | N | 0.487 | neutral | None | None | None | None | N |
| S/L | 0.2455 | likely_benign | 0.2312 | benign | -0.14 | Destabilizing | 0.081 | N | 0.511 | neutral | None | None | None | None | N |
| S/M | 0.3843 | ambiguous | 0.3388 | benign | 0.119 | Stabilizing | 0.791 | D | 0.536 | neutral | None | None | None | None | N |
| S/N | 0.1912 | likely_benign | 0.1857 | benign | -0.775 | Destabilizing | 0.117 | N | 0.502 | neutral | D | 0.593756315 | None | None | N |
| S/P | 0.7691 | likely_pathogenic | 0.7952 | pathogenic | -0.315 | Destabilizing | 0.555 | D | 0.557 | neutral | None | None | None | None | N |
| S/Q | 0.5934 | likely_pathogenic | 0.5515 | ambiguous | -0.896 | Destabilizing | 0.555 | D | 0.556 | neutral | None | None | None | None | N |
| S/R | 0.4889 | ambiguous | 0.4579 | ambiguous | -0.641 | Destabilizing | 0.317 | N | 0.563 | neutral | D | 0.599032242 | None | None | N |
| S/T | 0.1282 | likely_benign | 0.1186 | benign | -0.763 | Destabilizing | 0.002 | N | 0.177 | neutral | N | 0.511905135 | None | None | N |
| S/V | 0.3767 | ambiguous | 0.3506 | ambiguous | -0.315 | Destabilizing | 0.081 | N | 0.527 | neutral | None | None | None | None | N |
| S/W | 0.623 | likely_pathogenic | 0.6107 | pathogenic | -0.866 | Destabilizing | 0.935 | D | 0.579 | neutral | None | None | None | None | N |
| S/Y | 0.3879 | ambiguous | 0.4089 | ambiguous | -0.587 | Destabilizing | 0.791 | D | 0.557 | 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.