Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28112 | 84559;84560;84561 | chr2:178561798;178561797;178561796 | chr2:179426525;179426524;179426523 |
| N2AB | 26471 | 79636;79637;79638 | chr2:178561798;178561797;178561796 | chr2:179426525;179426524;179426523 |
| N2A | 25544 | 76855;76856;76857 | chr2:178561798;178561797;178561796 | chr2:179426525;179426524;179426523 |
| N2B | 19047 | 57364;57365;57366 | chr2:178561798;178561797;178561796 | chr2:179426525;179426524;179426523 |
| Novex-1 | 19172 | 57739;57740;57741 | chr2:178561798;178561797;178561796 | chr2:179426525;179426524;179426523 |
| Novex-2 | 19239 | 57940;57941;57942 | chr2:178561798;178561797;178561796 | chr2:179426525;179426524;179426523 |
| 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/I | rs1429490203  |
0.062 | 0.994 | N | 0.729 | 0.475 | 0.467839254973 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| T/I | rs1429490203 |
0.062 | 0.994 | N | 0.729 | 0.475 | 0.467839254973 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs1429490203 |
0.062 | 0.994 | N | 0.729 | 0.475 | 0.467839254973 | gnomAD-4.0.0 | 3.71853E-06 | None | None | None | None | N | None | 1.33479E-05 | 1.66733E-05 | None | 0 | 0 | None | 0 | 0 | 2.5429E-06 | 0 | 1.60123E-05 |
| T/K | None | None | 0.988 | N | 0.654 | 0.484 | 0.408714661073 | gnomAD-4.0.0 | 6.84286E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65673E-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 | 0.184 | likely_benign | 0.1533 | benign | -0.971 | Destabilizing | 0.958 | D | 0.433 | neutral | N | 0.497653021 | None | None | N |
| T/C | 0.4965 | ambiguous | 0.414 | ambiguous | -0.415 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| T/D | 0.7046 | likely_pathogenic | 0.6457 | pathogenic | 0.016 | Stabilizing | 0.995 | D | 0.646 | neutral | None | None | None | None | N |
| T/E | 0.6618 | likely_pathogenic | 0.6003 | pathogenic | 0.14 | Stabilizing | 0.991 | D | 0.651 | neutral | None | None | None | None | N |
| T/F | 0.7347 | likely_pathogenic | 0.6732 | pathogenic | -0.979 | Destabilizing | 0.998 | D | 0.761 | deleterious | None | None | None | None | N |
| T/G | 0.426 | ambiguous | 0.3843 | ambiguous | -1.312 | Destabilizing | 0.991 | D | 0.655 | neutral | None | None | None | None | N |
| T/H | 0.485 | ambiguous | 0.4192 | ambiguous | -1.326 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| T/I | 0.7126 | likely_pathogenic | 0.6223 | pathogenic | -0.114 | Destabilizing | 0.994 | D | 0.729 | prob.delet. | N | 0.518466301 | None | None | N |
| T/K | 0.4076 | ambiguous | 0.3244 | benign | -0.07 | Destabilizing | 0.988 | D | 0.654 | neutral | N | 0.480700855 | None | None | N |
| T/L | 0.249 | likely_benign | 0.2223 | benign | -0.114 | Destabilizing | 0.968 | D | 0.537 | neutral | None | None | None | None | N |
| T/M | 0.1911 | likely_benign | 0.1676 | benign | -0.112 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| T/N | 0.1405 | likely_benign | 0.1223 | benign | -0.46 | Destabilizing | 0.995 | D | 0.633 | neutral | None | None | None | None | N |
| T/P | 0.1324 | likely_benign | 0.0978 | benign | -0.368 | Destabilizing | 0.067 | N | 0.386 | neutral | N | 0.507629877 | None | None | N |
| T/Q | 0.383 | ambiguous | 0.3281 | benign | -0.351 | Destabilizing | 0.995 | D | 0.753 | deleterious | None | None | None | None | N |
| T/R | 0.3328 | likely_benign | 0.2772 | benign | -0.135 | Destabilizing | 0.994 | D | 0.741 | deleterious | N | 0.488396629 | None | None | N |
| T/S | 0.1901 | likely_benign | 0.1707 | benign | -0.862 | Destabilizing | 0.958 | D | 0.398 | neutral | N | 0.495082127 | None | None | N |
| T/V | 0.5128 | ambiguous | 0.4367 | ambiguous | -0.368 | Destabilizing | 0.984 | D | 0.454 | neutral | None | None | None | None | N |
| T/W | 0.9198 | likely_pathogenic | 0.8969 | pathogenic | -0.979 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| T/Y | 0.6385 | likely_pathogenic | 0.5763 | pathogenic | -0.63 | Destabilizing | 0.998 | D | 0.761 | deleterious | 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.