Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17547 | 52864;52865;52866 | chr2:178608244;178608243;178608242 | chr2:179472971;179472970;179472969 |
| N2AB | 15906 | 47941;47942;47943 | chr2:178608244;178608243;178608242 | chr2:179472971;179472970;179472969 |
| N2A | 14979 | 45160;45161;45162 | chr2:178608244;178608243;178608242 | chr2:179472971;179472970;179472969 |
| N2B | 8482 | 25669;25670;25671 | chr2:178608244;178608243;178608242 | chr2:179472971;179472970;179472969 |
| Novex-1 | 8607 | 26044;26045;26046 | chr2:178608244;178608243;178608242 | chr2:179472971;179472970;179472969 |
| Novex-2 | 8674 | 26245;26246;26247 | chr2:178608244;178608243;178608242 | chr2:179472971;179472970;179472969 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | None | None | 0.999 | N | 0.637 | 0.492 | 0.390374949789 | gnomAD-4.0.0 | 4.12132E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.51E-06 | 0 | 1.66467E-05 |
| E/G | rs2055401286  |
None | 1.0 | N | 0.736 | 0.549 | 0.469415673434 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/G | rs2055401286 |
None | 1.0 | N | 0.736 | 0.549 | 0.469415673434 | gnomAD-4.0.0 | 6.57748E-06 | None | None | None | None | N | None | 2.41266E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | None | None | 0.999 | N | 0.479 | 0.416 | 0.352262096564 | gnomAD-4.0.0 | 2.74811E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70641E-06 | 0 | 1.66461E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.6245 | likely_pathogenic | 0.6073 | pathogenic | -1.627 | Destabilizing | 0.999 | D | 0.637 | neutral | N | 0.506531012 | None | None | N |
| E/C | 0.9695 | likely_pathogenic | 0.9689 | pathogenic | -1.096 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| E/D | 0.8896 | likely_pathogenic | 0.8857 | pathogenic | -1.669 | Destabilizing | 0.999 | D | 0.434 | neutral | N | 0.484864684 | None | None | N |
| E/F | 0.9739 | likely_pathogenic | 0.9679 | pathogenic | -1.406 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| E/G | 0.8511 | likely_pathogenic | 0.8306 | pathogenic | -2.028 | Highly Destabilizing | 1.0 | D | 0.736 | prob.delet. | N | 0.481902169 | None | None | N |
| E/H | 0.9435 | likely_pathogenic | 0.9326 | pathogenic | -1.514 | Destabilizing | 1.0 | D | 0.644 | neutral | None | None | None | None | N |
| E/I | 0.6212 | likely_pathogenic | 0.6146 | pathogenic | -0.484 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| E/K | 0.6335 | likely_pathogenic | 0.5789 | pathogenic | -1.758 | Destabilizing | 0.999 | D | 0.479 | neutral | N | 0.508032522 | None | None | N |
| E/L | 0.8286 | likely_pathogenic | 0.8175 | pathogenic | -0.484 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| E/M | 0.7609 | likely_pathogenic | 0.754 | pathogenic | 0.267 | Stabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| E/N | 0.931 | likely_pathogenic | 0.9224 | pathogenic | -2.001 | Highly Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| E/P | 0.9987 | likely_pathogenic | 0.9984 | pathogenic | -0.849 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| E/Q | 0.3684 | ambiguous | 0.3584 | ambiguous | -1.705 | Destabilizing | 1.0 | D | 0.578 | neutral | N | 0.511552829 | None | None | N |
| E/R | 0.815 | likely_pathogenic | 0.7612 | pathogenic | -1.587 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| E/S | 0.789 | likely_pathogenic | 0.7844 | pathogenic | -2.655 | Highly Destabilizing | 0.999 | D | 0.521 | neutral | None | None | None | None | N |
| E/T | 0.7693 | likely_pathogenic | 0.7577 | pathogenic | -2.28 | Highly Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| E/V | 0.4382 | ambiguous | 0.4137 | ambiguous | -0.849 | Destabilizing | 1.0 | D | 0.795 | deleterious | N | 0.412748485 | None | None | N |
| E/W | 0.9945 | likely_pathogenic | 0.9925 | pathogenic | -1.473 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| E/Y | 0.9653 | likely_pathogenic | 0.9568 | pathogenic | -1.252 | Destabilizing | 1.0 | D | 0.828 | 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.