Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33114 | 99565;99566;99567 | chr2:178537867;178537866;178537865 | chr2:179402594;179402593;179402592 |
| N2AB | 31473 | 94642;94643;94644 | chr2:178537867;178537866;178537865 | chr2:179402594;179402593;179402592 |
| N2A | 30546 | 91861;91862;91863 | chr2:178537867;178537866;178537865 | chr2:179402594;179402593;179402592 |
| N2B | 24049 | 72370;72371;72372 | chr2:178537867;178537866;178537865 | chr2:179402594;179402593;179402592 |
| Novex-1 | 24174 | 72745;72746;72747 | chr2:178537867;178537866;178537865 | chr2:179402594;179402593;179402592 |
| Novex-2 | 24241 | 72946;72947;72948 | chr2:178537867;178537866;178537865 | chr2:179402594;179402593;179402592 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs1203503394  |
-1.837 | 1.0 | N | 0.659 | 0.174 | 0.473065174198 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 1.14732E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/F | rs1203503394 |
-1.837 | 1.0 | N | 0.659 | 0.174 | 0.473065174198 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 2.88351E-04 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/F | rs1203503394 |
-1.837 | 1.0 | N | 0.659 | 0.174 | 0.473065174198 | gnomAD-4.0.0 | 3.84546E-06 | None | None | None | None | N | None | 1.69285E-05 | 0 | None | 4.09433E-05 | 0 | None | 0 | 2.24417E-04 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.5244 | ambiguous | 0.5616 | ambiguous | -1.295 | Destabilizing | 1.0 | D | 0.603 | neutral | None | None | None | None | N |
| L/C | 0.8834 | likely_pathogenic | 0.8886 | pathogenic | -0.719 | Destabilizing | 1.0 | D | 0.6 | neutral | None | None | None | None | N |
| L/D | 0.9479 | likely_pathogenic | 0.9574 | pathogenic | -0.659 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| L/E | 0.7451 | likely_pathogenic | 0.7535 | pathogenic | -0.715 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| L/F | 0.4814 | ambiguous | 0.5228 | ambiguous | -1.054 | Destabilizing | 1.0 | D | 0.659 | neutral | N | 0.514448701 | None | None | N |
| L/G | 0.89 | likely_pathogenic | 0.9079 | pathogenic | -1.549 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| L/H | 0.7036 | likely_pathogenic | 0.7231 | pathogenic | -0.783 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| L/I | 0.1838 | likely_benign | 0.1825 | benign | -0.708 | Destabilizing | 0.996 | D | 0.405 | neutral | None | None | None | None | N |
| L/K | 0.6271 | likely_pathogenic | 0.6337 | pathogenic | -0.755 | Destabilizing | 0.999 | D | 0.706 | prob.neutral | None | None | None | None | N |
| L/M | 0.2522 | likely_benign | 0.2688 | benign | -0.477 | Destabilizing | 1.0 | D | 0.627 | neutral | N | 0.514622059 | None | None | N |
| L/N | 0.8125 | likely_pathogenic | 0.8386 | pathogenic | -0.476 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| L/P | 0.691 | likely_pathogenic | 0.7338 | pathogenic | -0.871 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| L/Q | 0.4661 | ambiguous | 0.4888 | ambiguous | -0.73 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| L/R | 0.5173 | ambiguous | 0.5133 | ambiguous | -0.136 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| L/S | 0.7482 | likely_pathogenic | 0.7928 | pathogenic | -1.04 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.476757104 | None | None | N |
| L/T | 0.5642 | likely_pathogenic | 0.6142 | pathogenic | -0.988 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| L/V | 0.2363 | likely_benign | 0.2428 | benign | -0.871 | Destabilizing | 0.996 | D | 0.452 | neutral | N | 0.431944748 | None | None | N |
| L/W | 0.6294 | likely_pathogenic | 0.6668 | pathogenic | -1.063 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | N | 0.463454022 | None | None | N |
| L/Y | 0.751 | likely_pathogenic | 0.775 | pathogenic | -0.837 | Destabilizing | 0.999 | D | 0.675 | prob.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.