Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3151 | 9676;9677;9678 | chr2:178767779;178767778;178767777 | chr2:179632506;179632505;179632504 |
| N2AB | 3151 | 9676;9677;9678 | chr2:178767779;178767778;178767777 | chr2:179632506;179632505;179632504 |
| N2A | 3151 | 9676;9677;9678 | chr2:178767779;178767778;178767777 | chr2:179632506;179632505;179632504 |
| N2B | 3105 | 9538;9539;9540 | chr2:178767779;178767778;178767777 | chr2:179632506;179632505;179632504 |
| Novex-1 | 3105 | 9538;9539;9540 | chr2:178767779;178767778;178767777 | chr2:179632506;179632505;179632504 |
| Novex-2 | 3105 | 9538;9539;9540 | chr2:178767779;178767778;178767777 | chr2:179632506;179632505;179632504 |
| Novex-3 | 3151 | 9676;9677;9678 | chr2:178767779;178767778;178767777 | chr2:179632506;179632505;179632504 |
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/N | rs749077031  |
-0.191 | 0.961 | N | 0.39 | 0.233 | 0.318540980066 | gnomAD-2.1.1 | 7.97E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.44E-05 | None | 0 | None | 0 | 8.82E-06 | 0 |
| S/N | rs749077031 |
-0.191 | 0.961 | N | 0.39 | 0.233 | 0.318540980066 | gnomAD-4.0.0 | 2.05225E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51902E-05 | None | 0 | 0 | 1.79861E-06 | 0 | 0 |
| S/R | rs879041803 |
None | 0.989 | N | 0.429 | 0.326 | 0.230578612272 | gnomAD-4.0.0 | 1.59056E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85659E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0859 | likely_benign | 0.1072 | benign | -0.53 | Destabilizing | 0.525 | D | 0.272 | neutral | None | None | None | None | N |
| S/C | 0.2075 | likely_benign | 0.2218 | benign | -0.333 | Destabilizing | 0.028 | N | 0.231 | neutral | N | 0.494527749 | None | None | N |
| S/D | 0.8265 | likely_pathogenic | 0.788 | pathogenic | 0.267 | Stabilizing | 0.915 | D | 0.359 | neutral | None | None | None | None | N |
| S/E | 0.818 | likely_pathogenic | 0.7947 | pathogenic | 0.303 | Stabilizing | 0.915 | D | 0.36 | neutral | None | None | None | None | N |
| S/F | 0.7043 | likely_pathogenic | 0.6818 | pathogenic | -0.528 | Destabilizing | 0.991 | D | 0.496 | neutral | None | None | None | None | N |
| S/G | 0.1994 | likely_benign | 0.1972 | benign | -0.815 | Destabilizing | 0.771 | D | 0.376 | neutral | N | 0.510879594 | None | None | N |
| S/H | 0.7441 | likely_pathogenic | 0.7272 | pathogenic | -1.2 | Destabilizing | 0.998 | D | 0.416 | neutral | None | None | None | None | N |
| S/I | 0.5596 | ambiguous | 0.5399 | ambiguous | 0.128 | Stabilizing | 0.934 | D | 0.463 | neutral | N | 0.503918272 | None | None | N |
| S/K | 0.9533 | likely_pathogenic | 0.9517 | pathogenic | -0.369 | Destabilizing | 0.915 | D | 0.348 | neutral | None | None | None | None | N |
| S/L | 0.3368 | likely_benign | 0.3293 | benign | 0.128 | Stabilizing | 0.728 | D | 0.465 | neutral | None | None | None | None | N |
| S/M | 0.4732 | ambiguous | 0.4763 | ambiguous | 0.091 | Stabilizing | 0.991 | D | 0.418 | neutral | None | None | None | None | N |
| S/N | 0.3813 | ambiguous | 0.3255 | benign | -0.371 | Destabilizing | 0.961 | D | 0.39 | neutral | N | 0.510879594 | None | None | N |
| S/P | 0.1608 | likely_benign | 0.217 | benign | -0.056 | Destabilizing | 0.007 | N | 0.184 | neutral | None | None | None | None | N |
| S/Q | 0.7861 | likely_pathogenic | 0.7854 | pathogenic | -0.394 | Destabilizing | 0.991 | D | 0.407 | neutral | None | None | None | None | N |
| S/R | 0.9341 | likely_pathogenic | 0.9274 | pathogenic | -0.446 | Destabilizing | 0.989 | D | 0.429 | neutral | N | 0.496657608 | None | None | N |
| S/T | 0.1574 | likely_benign | 0.1611 | benign | -0.384 | Destabilizing | 0.801 | D | 0.401 | neutral | N | 0.502013901 | None | None | N |
| S/V | 0.4636 | ambiguous | 0.4541 | ambiguous | -0.056 | Destabilizing | 0.842 | D | 0.475 | neutral | None | None | None | None | N |
| S/W | 0.7676 | likely_pathogenic | 0.7422 | pathogenic | -0.553 | Destabilizing | 0.998 | D | 0.602 | neutral | None | None | None | None | N |
| S/Y | 0.5766 | likely_pathogenic | 0.5213 | ambiguous | -0.244 | Destabilizing | 0.991 | D | 0.491 | 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.