Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21746 | 65461;65462;65463 | chr2:178584315;178584314;178584313 | chr2:179449042;179449041;179449040 |
| N2AB | 20105 | 60538;60539;60540 | chr2:178584315;178584314;178584313 | chr2:179449042;179449041;179449040 |
| N2A | 19178 | 57757;57758;57759 | chr2:178584315;178584314;178584313 | chr2:179449042;179449041;179449040 |
| N2B | 12681 | 38266;38267;38268 | chr2:178584315;178584314;178584313 | chr2:179449042;179449041;179449040 |
| Novex-1 | 12806 | 38641;38642;38643 | chr2:178584315;178584314;178584313 | chr2:179449042;179449041;179449040 |
| Novex-2 | 12873 | 38842;38843;38844 | chr2:178584315;178584314;178584313 | chr2:179449042;179449041;179449040 |
| 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/R | None | None | 0.999 | D | 0.84 | 0.61 | 0.550545596621 | gnomAD-4.0.0 | 8.16716E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.17925E-05 | 1.4741E-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 | 0.4394 | ambiguous | 0.3724 | ambiguous | -0.874 | Destabilizing | 0.964 | D | 0.751 | deleterious | None | None | None | None | N |
| S/C | 0.3804 | ambiguous | 0.3217 | benign | -0.744 | Destabilizing | 0.135 | N | 0.671 | neutral | N | 0.516201117 | None | None | N |
| S/D | 0.9926 | likely_pathogenic | 0.9877 | pathogenic | -1.587 | Destabilizing | 0.999 | D | 0.864 | deleterious | None | None | None | None | N |
| S/E | 0.9946 | likely_pathogenic | 0.9925 | pathogenic | -1.408 | Destabilizing | 0.999 | D | 0.863 | deleterious | None | None | None | None | N |
| S/F | 0.9926 | likely_pathogenic | 0.9901 | pathogenic | -0.484 | Destabilizing | 0.999 | D | 0.887 | deleterious | None | None | None | None | N |
| S/G | 0.391 | ambiguous | 0.2513 | benign | -1.261 | Destabilizing | 0.99 | D | 0.815 | deleterious | N | 0.516984358 | None | None | N |
| S/H | 0.9891 | likely_pathogenic | 0.9849 | pathogenic | -1.554 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| S/I | 0.9803 | likely_pathogenic | 0.9728 | pathogenic | 0.107 | Stabilizing | 0.997 | D | 0.884 | deleterious | D | 0.550092222 | None | None | N |
| S/K | 0.9991 | likely_pathogenic | 0.9985 | pathogenic | -0.66 | Destabilizing | 0.999 | D | 0.851 | deleterious | None | None | None | None | N |
| S/L | 0.9136 | likely_pathogenic | 0.8829 | pathogenic | 0.107 | Stabilizing | 0.985 | D | 0.877 | deleterious | None | None | None | None | N |
| S/M | 0.9472 | likely_pathogenic | 0.9394 | pathogenic | -0.041 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| S/N | 0.9621 | likely_pathogenic | 0.9361 | pathogenic | -1.229 | Destabilizing | 0.999 | D | 0.857 | deleterious | D | 0.549838733 | None | None | N |
| S/P | 0.9937 | likely_pathogenic | 0.9919 | pathogenic | -0.186 | Destabilizing | 0.999 | D | 0.849 | deleterious | None | None | None | None | N |
| S/Q | 0.9894 | likely_pathogenic | 0.9855 | pathogenic | -0.998 | Destabilizing | 0.999 | D | 0.828 | deleterious | None | None | None | None | N |
| S/R | 0.9979 | likely_pathogenic | 0.996 | pathogenic | -0.951 | Destabilizing | 0.999 | D | 0.84 | deleterious | D | 0.537721959 | None | None | N |
| S/T | 0.5059 | ambiguous | 0.4985 | ambiguous | -0.907 | Destabilizing | 0.99 | D | 0.811 | deleterious | N | 0.505170299 | None | None | N |
| S/V | 0.9437 | likely_pathogenic | 0.9271 | pathogenic | -0.186 | Destabilizing | 0.996 | D | 0.875 | deleterious | None | None | None | None | N |
| S/W | 0.9939 | likely_pathogenic | 0.9918 | pathogenic | -0.763 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| S/Y | 0.9907 | likely_pathogenic | 0.9868 | pathogenic | -0.355 | Destabilizing | 0.999 | D | 0.891 | 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.