Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27383 | 82372;82373;82374 | chr2:178563985;178563984;178563983 | chr2:179428712;179428711;179428710 |
| N2AB | 25742 | 77449;77450;77451 | chr2:178563985;178563984;178563983 | chr2:179428712;179428711;179428710 |
| N2A | 24815 | 74668;74669;74670 | chr2:178563985;178563984;178563983 | chr2:179428712;179428711;179428710 |
| N2B | 18318 | 55177;55178;55179 | chr2:178563985;178563984;178563983 | chr2:179428712;179428711;179428710 |
| Novex-1 | 18443 | 55552;55553;55554 | chr2:178563985;178563984;178563983 | chr2:179428712;179428711;179428710 |
| Novex-2 | 18510 | 55753;55754;55755 | chr2:178563985;178563984;178563983 | chr2:179428712;179428711;179428710 |
| 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 | rs768253514  |
-0.882 | 0.37 | N | 0.215 | 0.204 | 0.18995819373 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| T/A | rs768253514 |
-0.882 | 0.37 | N | 0.215 | 0.204 | 0.18995819373 | gnomAD-4.0.0 | 6.84242E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52054E-05 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs746519411 |
0.006 | 0.997 | N | 0.473 | 0.394 | 0.482283251092 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| T/I | rs746519411 |
0.006 | 0.997 | N | 0.473 | 0.394 | 0.482283251092 | gnomAD-4.0.0 | 5.47393E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29657E-06 | 0 | 1.65667E-05 |
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 | 0.2916 | likely_benign | 0.2582 | benign | -0.634 | Destabilizing | 0.37 | N | 0.215 | neutral | N | 0.521620681 | None | None | N |
| T/C | 0.7338 | likely_pathogenic | 0.7192 | pathogenic | -0.599 | Destabilizing | 1.0 | D | 0.462 | neutral | None | None | None | None | N |
| T/D | 0.7267 | likely_pathogenic | 0.7012 | pathogenic | -1.499 | Destabilizing | 0.998 | D | 0.429 | neutral | None | None | None | None | N |
| T/E | 0.7844 | likely_pathogenic | 0.7563 | pathogenic | -1.453 | Destabilizing | 0.983 | D | 0.427 | neutral | None | None | None | None | N |
| T/F | 0.6114 | likely_pathogenic | 0.5807 | pathogenic | -0.629 | Destabilizing | 0.999 | D | 0.535 | neutral | None | None | None | None | N |
| T/G | 0.47 | ambiguous | 0.4426 | ambiguous | -0.932 | Destabilizing | 0.967 | D | 0.457 | neutral | None | None | None | None | N |
| T/H | 0.5896 | likely_pathogenic | 0.556 | ambiguous | -1.337 | Destabilizing | 1.0 | D | 0.511 | neutral | None | None | None | None | N |
| T/I | 0.7381 | likely_pathogenic | 0.7102 | pathogenic | 0.082 | Stabilizing | 0.997 | D | 0.473 | neutral | N | 0.504533237 | None | None | N |
| T/K | 0.6109 | likely_pathogenic | 0.5816 | pathogenic | -0.942 | Destabilizing | 0.967 | D | 0.436 | neutral | None | None | None | None | N |
| T/L | 0.2797 | likely_benign | 0.2748 | benign | 0.082 | Stabilizing | 0.983 | D | 0.413 | neutral | None | None | None | None | N |
| T/M | 0.174 | likely_benign | 0.1723 | benign | 0.408 | Stabilizing | 1.0 | D | 0.451 | neutral | None | None | None | None | N |
| T/N | 0.2792 | likely_benign | 0.2627 | benign | -1.217 | Destabilizing | 0.997 | D | 0.444 | neutral | N | 0.470611997 | None | None | N |
| T/P | 0.7745 | likely_pathogenic | 0.7082 | pathogenic | -0.124 | Destabilizing | 0.997 | D | 0.469 | neutral | N | 0.512927028 | None | None | N |
| T/Q | 0.5723 | likely_pathogenic | 0.5474 | ambiguous | -1.348 | Destabilizing | 0.995 | D | 0.477 | neutral | None | None | None | None | N |
| T/R | 0.5234 | ambiguous | 0.4953 | ambiguous | -0.743 | Destabilizing | 0.296 | N | 0.321 | neutral | None | None | None | None | N |
| T/S | 0.1844 | likely_benign | 0.1797 | benign | -1.262 | Destabilizing | 0.956 | D | 0.429 | neutral | N | 0.448178928 | None | None | N |
| T/V | 0.5358 | ambiguous | 0.5193 | ambiguous | -0.124 | Destabilizing | 0.983 | D | 0.421 | neutral | None | None | None | None | N |
| T/W | 0.8719 | likely_pathogenic | 0.8697 | pathogenic | -0.728 | Destabilizing | 1.0 | D | 0.53 | neutral | None | None | None | None | N |
| T/Y | 0.6516 | likely_pathogenic | 0.6188 | pathogenic | -0.412 | Destabilizing | 0.999 | D | 0.538 | 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.