Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30846 | 92761;92762;92763 | chr2:178549090;178549089;178549088 | chr2:179413817;179413816;179413815 |
| N2AB | 29205 | 87838;87839;87840 | chr2:178549090;178549089;178549088 | chr2:179413817;179413816;179413815 |
| N2A | 28278 | 85057;85058;85059 | chr2:178549090;178549089;178549088 | chr2:179413817;179413816;179413815 |
| N2B | 21781 | 65566;65567;65568 | chr2:178549090;178549089;178549088 | chr2:179413817;179413816;179413815 |
| Novex-1 | 21906 | 65941;65942;65943 | chr2:178549090;178549089;178549088 | chr2:179413817;179413816;179413815 |
| Novex-2 | 21973 | 66142;66143;66144 | chr2:178549090;178549089;178549088 | chr2:179413817;179413816;179413815 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs77968867  |
-0.289 | 0.003 | N | 0.153 | 0.216 | None | gnomAD-2.1.1 | 8.10008E-04 | None | None | None | None | I | None | 8.97287E-03 | 1.98053E-04 | None | 0 | 0 | None | 0 | None | 0 | 2.34E-05 | 0 |
| V/A | rs77968867 |
-0.289 | 0.003 | N | 0.153 | 0.216 | None | gnomAD-3.1.2 | 2.45952E-03 | None | None | None | None | I | None | 8.766E-03 | 2.62123E-04 | 0 | 0 | 0 | None | 0 | 3.16456E-03 | 2.94E-05 | 0 | 1.91571E-03 |
| V/A | rs77968867 |
-0.289 | 0.003 | N | 0.153 | 0.216 | None | 1000 genomes | 2.79553E-03 | None | None | None | None | I | None | 9.1E-03 | 2.9E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| V/A | rs77968867 |
-0.289 | 0.003 | N | 0.153 | 0.216 | None | gnomAD-4.0.0 | 4.58552E-04 | None | None | None | None | I | None | 9.17309E-03 | 2.66702E-04 | None | 0 | 0 | None | 0 | 1.65017E-04 | 5.93315E-06 | 0 | 4.48158E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1381 | likely_benign | 0.1095 | benign | -0.423 | Destabilizing | 0.003 | N | 0.153 | neutral | N | 0.39549645 | None | None | I |
| V/C | 0.6801 | likely_pathogenic | 0.6592 | pathogenic | -0.604 | Destabilizing | 0.996 | D | 0.537 | neutral | None | None | None | None | I |
| V/D | 0.4096 | ambiguous | 0.3301 | benign | -0.295 | Destabilizing | 0.961 | D | 0.645 | neutral | None | None | None | None | I |
| V/E | 0.3687 | ambiguous | 0.2934 | benign | -0.416 | Destabilizing | 0.901 | D | 0.598 | neutral | N | 0.437535073 | None | None | I |
| V/F | 0.1947 | likely_benign | 0.1864 | benign | -0.69 | Destabilizing | 0.923 | D | 0.516 | neutral | None | None | None | None | I |
| V/G | 0.1821 | likely_benign | 0.155 | benign | -0.537 | Destabilizing | 0.565 | D | 0.544 | neutral | N | 0.467263335 | None | None | I |
| V/H | 0.5996 | likely_pathogenic | 0.5509 | ambiguous | -0.114 | Destabilizing | 0.996 | D | 0.656 | neutral | None | None | None | None | I |
| V/I | 0.0752 | likely_benign | 0.0765 | benign | -0.278 | Destabilizing | 0.011 | N | 0.249 | neutral | None | None | None | None | I |
| V/K | 0.4853 | ambiguous | 0.4126 | ambiguous | -0.392 | Destabilizing | 0.923 | D | 0.61 | neutral | None | None | None | None | I |
| V/L | 0.148 | likely_benign | 0.1299 | benign | -0.278 | Destabilizing | 0.156 | N | 0.47 | neutral | N | 0.42939838 | None | None | I |
| V/M | 0.1332 | likely_benign | 0.1232 | benign | -0.365 | Destabilizing | 0.901 | D | 0.499 | neutral | N | 0.469764922 | None | None | I |
| V/N | 0.2649 | likely_benign | 0.2226 | benign | -0.132 | Destabilizing | 0.961 | D | 0.648 | neutral | None | None | None | None | I |
| V/P | 0.4011 | ambiguous | 0.3315 | benign | -0.292 | Destabilizing | 0.961 | D | 0.612 | neutral | None | None | None | None | I |
| V/Q | 0.3679 | ambiguous | 0.3119 | benign | -0.383 | Destabilizing | 0.961 | D | 0.617 | neutral | None | None | None | None | I |
| V/R | 0.4089 | ambiguous | 0.3545 | ambiguous | 0.127 | Stabilizing | 0.961 | D | 0.648 | neutral | None | None | None | None | I |
| V/S | 0.177 | likely_benign | 0.1447 | benign | -0.468 | Destabilizing | 0.633 | D | 0.509 | neutral | None | None | None | None | I |
| V/T | 0.195 | likely_benign | 0.1583 | benign | -0.49 | Destabilizing | 0.775 | D | 0.503 | neutral | None | None | None | None | I |
| V/W | 0.8344 | likely_pathogenic | 0.8074 | pathogenic | -0.762 | Destabilizing | 0.996 | D | 0.733 | prob.delet. | None | None | None | None | I |
| V/Y | 0.538 | ambiguous | 0.5067 | ambiguous | -0.466 | Destabilizing | 0.961 | D | 0.519 | 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.