Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22010 | 66253;66254;66255 | chr2:178582428;178582427;178582426 | chr2:179447155;179447154;179447153 |
| N2AB | 20369 | 61330;61331;61332 | chr2:178582428;178582427;178582426 | chr2:179447155;179447154;179447153 |
| N2A | 19442 | 58549;58550;58551 | chr2:178582428;178582427;178582426 | chr2:179447155;179447154;179447153 |
| N2B | 12945 | 39058;39059;39060 | chr2:178582428;178582427;178582426 | chr2:179447155;179447154;179447153 |
| Novex-1 | 13070 | 39433;39434;39435 | chr2:178582428;178582427;178582426 | chr2:179447155;179447154;179447153 |
| Novex-2 | 13137 | 39634;39635;39636 | chr2:178582428;178582427;178582426 | chr2:179447155;179447154;179447153 |
| 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 | rs2047989715  |
None | 0.052 | N | 0.551 | 0.223 | 0.442775082573 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07211E-04 | 0 |
| V/A | rs2047989715 |
None | 0.052 | N | 0.551 | 0.223 | 0.442775082573 | gnomAD-4.0.0 | 2.48013E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.19679E-05 | 3.20503E-05 |
| V/E | None | None | 0.062 | N | 0.634 | 0.316 | 0.557365556891 | gnomAD-4.0.0 | 1.36912E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79952E-06 | 0 | 0 |
| V/M | rs759353605 |
None | 0.317 | N | 0.581 | 0.171 | 0.500868654924 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/M | rs759353605 |
None | 0.317 | N | 0.581 | 0.171 | 0.500868654924 | gnomAD-4.0.0 | 3.10021E-06 | None | None | None | None | N | None | 0 | 1.66872E-05 | None | 0 | 0 | None | 0 | 0 | 3.39162E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.5508 | ambiguous | 0.4807 | ambiguous | -1.762 | Destabilizing | 0.052 | N | 0.551 | neutral | N | 0.499660968 | None | None | N |
| V/C | 0.8257 | likely_pathogenic | 0.8021 | pathogenic | -1.307 | Destabilizing | 0.935 | D | 0.551 | neutral | None | None | None | None | N |
| V/D | 0.9257 | likely_pathogenic | 0.917 | pathogenic | -2.062 | Highly Destabilizing | 0.001 | N | 0.572 | neutral | None | None | None | None | N |
| V/E | 0.8456 | likely_pathogenic | 0.8283 | pathogenic | -1.896 | Destabilizing | 0.062 | N | 0.634 | neutral | N | 0.479669989 | None | None | N |
| V/F | 0.5612 | ambiguous | 0.4874 | ambiguous | -1.081 | Destabilizing | 0.38 | N | 0.617 | neutral | None | None | None | None | N |
| V/G | 0.7801 | likely_pathogenic | 0.7433 | pathogenic | -2.249 | Highly Destabilizing | 0.117 | N | 0.657 | neutral | N | 0.477610827 | None | None | N |
| V/H | 0.9366 | likely_pathogenic | 0.9197 | pathogenic | -2.009 | Highly Destabilizing | 0.935 | D | 0.607 | neutral | None | None | None | None | N |
| V/I | 0.0897 | likely_benign | 0.0818 | benign | -0.44 | Destabilizing | None | N | 0.16 | neutral | None | None | None | None | N |
| V/K | 0.8987 | likely_pathogenic | 0.8807 | pathogenic | -1.407 | Destabilizing | 0.38 | N | 0.637 | neutral | None | None | None | None | N |
| V/L | 0.3885 | ambiguous | 0.3157 | benign | -0.44 | Destabilizing | 0.009 | N | 0.453 | neutral | N | 0.508339166 | None | None | N |
| V/M | 0.3321 | likely_benign | 0.2659 | benign | -0.48 | Destabilizing | 0.317 | N | 0.581 | neutral | N | 0.500562629 | None | None | N |
| V/N | 0.7795 | likely_pathogenic | 0.7386 | pathogenic | -1.576 | Destabilizing | 0.235 | N | 0.638 | neutral | None | None | None | None | N |
| V/P | 0.9455 | likely_pathogenic | 0.9294 | pathogenic | -0.85 | Destabilizing | 0.555 | D | 0.625 | neutral | None | None | None | None | N |
| V/Q | 0.8256 | likely_pathogenic | 0.7825 | pathogenic | -1.494 | Destabilizing | 0.555 | D | 0.627 | neutral | None | None | None | None | N |
| V/R | 0.8779 | likely_pathogenic | 0.8523 | pathogenic | -1.205 | Destabilizing | 0.555 | D | 0.646 | neutral | None | None | None | None | N |
| V/S | 0.647 | likely_pathogenic | 0.6021 | pathogenic | -2.197 | Highly Destabilizing | 0.081 | N | 0.614 | neutral | None | None | None | None | N |
| V/T | 0.5547 | ambiguous | 0.4769 | ambiguous | -1.895 | Destabilizing | 0.002 | N | 0.512 | neutral | None | None | None | None | N |
| V/W | 0.9805 | likely_pathogenic | 0.9732 | pathogenic | -1.549 | Destabilizing | 0.935 | D | 0.652 | neutral | None | None | None | None | N |
| V/Y | 0.9043 | likely_pathogenic | 0.8789 | pathogenic | -1.142 | Destabilizing | 0.555 | D | 0.609 | 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.