Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16901 | 50926;50927;50928 | chr2:178611528;178611527;178611526 | chr2:179476255;179476254;179476253 |
| N2AB | 15260 | 46003;46004;46005 | chr2:178611528;178611527;178611526 | chr2:179476255;179476254;179476253 |
| N2A | 14333 | 43222;43223;43224 | chr2:178611528;178611527;178611526 | chr2:179476255;179476254;179476253 |
| N2B | 7836 | 23731;23732;23733 | chr2:178611528;178611527;178611526 | chr2:179476255;179476254;179476253 |
| Novex-1 | 7961 | 24106;24107;24108 | chr2:178611528;178611527;178611526 | chr2:179476255;179476254;179476253 |
| Novex-2 | 8028 | 24307;24308;24309 | chr2:178611528;178611527;178611526 | chr2:179476255;179476254;179476253 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | rs1398055994  |
-1.317 | 1.0 | N | 0.719 | 0.412 | 0.401327265625 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/G | rs1398055994 |
-1.317 | 1.0 | N | 0.719 | 0.412 | 0.401327265625 | 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 |
| R/G | rs1398055994 |
-1.317 | 1.0 | N | 0.719 | 0.412 | 0.401327265625 | gnomAD-4.0.0 | 2.56472E-06 | None | None | None | None | N | None | 3.38547E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.903 | likely_pathogenic | 0.9137 | pathogenic | -0.868 | Destabilizing | 0.999 | D | 0.649 | neutral | None | None | None | None | N |
| R/C | 0.6669 | likely_pathogenic | 0.7231 | pathogenic | -0.747 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| R/D | 0.9795 | likely_pathogenic | 0.9805 | pathogenic | -0.236 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| R/E | 0.8963 | likely_pathogenic | 0.9051 | pathogenic | -0.123 | Destabilizing | 0.999 | D | 0.668 | neutral | None | None | None | None | N |
| R/F | 0.9524 | likely_pathogenic | 0.9668 | pathogenic | -0.785 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| R/G | 0.8997 | likely_pathogenic | 0.9095 | pathogenic | -1.175 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.466340812 | None | None | N |
| R/H | 0.5315 | ambiguous | 0.5623 | ambiguous | -1.488 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| R/I | 0.7563 | likely_pathogenic | 0.8223 | pathogenic | -0.046 | Destabilizing | 1.0 | D | 0.778 | deleterious | N | 0.50199112 | None | None | N |
| R/K | 0.4028 | ambiguous | 0.389 | ambiguous | -0.963 | Destabilizing | 0.997 | D | 0.529 | neutral | N | 0.460212767 | None | None | N |
| R/L | 0.682 | likely_pathogenic | 0.7302 | pathogenic | -0.046 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| R/M | 0.8052 | likely_pathogenic | 0.8523 | pathogenic | -0.243 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| R/N | 0.961 | likely_pathogenic | 0.965 | pathogenic | -0.357 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| R/P | 0.8644 | likely_pathogenic | 0.8451 | pathogenic | -0.3 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| R/Q | 0.4556 | ambiguous | 0.478 | ambiguous | -0.563 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| R/S | 0.9658 | likely_pathogenic | 0.9677 | pathogenic | -1.109 | Destabilizing | 1.0 | D | 0.78 | deleterious | N | 0.477923381 | None | None | N |
| R/T | 0.8804 | likely_pathogenic | 0.8876 | pathogenic | -0.822 | Destabilizing | 1.0 | D | 0.771 | deleterious | N | 0.473971524 | None | None | N |
| R/V | 0.795 | likely_pathogenic | 0.8415 | pathogenic | -0.3 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| R/W | 0.6968 | likely_pathogenic | 0.7838 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| R/Y | 0.8972 | likely_pathogenic | 0.9339 | pathogenic | -0.141 | Destabilizing | 1.0 | D | 0.779 | 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.