Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33273 | 100042;100043;100044 | chr2:178537390;178537389;178537388 | chr2:179402117;179402116;179402115 |
| N2AB | 31632 | 95119;95120;95121 | chr2:178537390;178537389;178537388 | chr2:179402117;179402116;179402115 |
| N2A | 30705 | 92338;92339;92340 | chr2:178537390;178537389;178537388 | chr2:179402117;179402116;179402115 |
| N2B | 24208 | 72847;72848;72849 | chr2:178537390;178537389;178537388 | chr2:179402117;179402116;179402115 |
| Novex-1 | 24333 | 73222;73223;73224 | chr2:178537390;178537389;178537388 | chr2:179402117;179402116;179402115 |
| Novex-2 | 24400 | 73423;73424;73425 | chr2:178537390;178537389;178537388 | chr2:179402117;179402116;179402115 |
| 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/I | rs774208494  |
None | 1.0 | N | 0.778 | 0.501 | 0.866189186955 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07469E-04 | 0 |
| S/I | rs774208494 |
None | 1.0 | N | 0.778 | 0.501 | 0.866189186955 | gnomAD-4.0.0 | 1.87559E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.37701E-05 | 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 | 0.1145 | likely_benign | 0.1184 | benign | -0.625 | Destabilizing | 0.998 | D | 0.569 | neutral | None | None | None | None | I |
| S/C | 0.1655 | likely_benign | 0.2033 | benign | -0.482 | Destabilizing | 1.0 | D | 0.753 | deleterious | N | 0.495647191 | None | None | I |
| S/D | 0.6066 | likely_pathogenic | 0.6055 | pathogenic | -0.64 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| S/E | 0.5925 | likely_pathogenic | 0.5861 | pathogenic | -0.7 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | I |
| S/F | 0.3623 | ambiguous | 0.418 | ambiguous | -1.151 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| S/G | 0.1622 | likely_benign | 0.1656 | benign | -0.783 | Destabilizing | 1.0 | D | 0.591 | neutral | D | 0.53629185 | None | None | I |
| S/H | 0.3683 | ambiguous | 0.3685 | ambiguous | -1.412 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| S/I | 0.333 | likely_benign | 0.3785 | ambiguous | -0.322 | Destabilizing | 1.0 | D | 0.778 | deleterious | N | 0.495140212 | None | None | I |
| S/K | 0.6337 | likely_pathogenic | 0.6439 | pathogenic | -0.735 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | I |
| S/L | 0.2008 | likely_benign | 0.2239 | benign | -0.322 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | I |
| S/M | 0.3347 | likely_benign | 0.3488 | ambiguous | 0.166 | Stabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| S/N | 0.1861 | likely_benign | 0.1975 | benign | -0.627 | Destabilizing | 0.998 | D | 0.722 | prob.delet. | D | 0.52517078 | None | None | I |
| S/P | 0.9721 | likely_pathogenic | 0.9724 | pathogenic | -0.393 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| S/Q | 0.4661 | ambiguous | 0.4458 | ambiguous | -0.95 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| S/R | 0.4898 | ambiguous | 0.5098 | ambiguous | -0.488 | Destabilizing | 1.0 | D | 0.783 | deleterious | N | 0.495194589 | None | None | I |
| S/T | 0.0984 | likely_benign | 0.1003 | benign | -0.644 | Destabilizing | 0.988 | D | 0.577 | neutral | N | 0.478683555 | None | None | I |
| S/V | 0.3295 | likely_benign | 0.361 | ambiguous | -0.393 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | I |
| S/W | 0.5291 | ambiguous | 0.5695 | pathogenic | -1.122 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| S/Y | 0.3112 | likely_benign | 0.3612 | ambiguous | -0.849 | Destabilizing | 1.0 | D | 0.789 | deleterious | 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.