Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25078 | 75457;75458;75459 | chr2:178570900;178570899;178570898 | chr2:179435627;179435626;179435625 |
| N2AB | 23437 | 70534;70535;70536 | chr2:178570900;178570899;178570898 | chr2:179435627;179435626;179435625 |
| N2A | 22510 | 67753;67754;67755 | chr2:178570900;178570899;178570898 | chr2:179435627;179435626;179435625 |
| N2B | 16013 | 48262;48263;48264 | chr2:178570900;178570899;178570898 | chr2:179435627;179435626;179435625 |
| Novex-1 | 16138 | 48637;48638;48639 | chr2:178570900;178570899;178570898 | chr2:179435627;179435626;179435625 |
| Novex-2 | 16205 | 48838;48839;48840 | chr2:178570900;178570899;178570898 | chr2:179435627;179435626;179435625 |
| 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/D | None | None | 0.979 | N | 0.559 | 0.282 | 0.210429274316 | gnomAD-4.0.0 | 1.59173E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77531E-05 | None | 0 | 0 | 0 | 0 | 0 |
| E/G | rs1223037515  |
-2.294 | 0.988 | N | 0.709 | 0.46 | 0.486060746414 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| E/G | rs1223037515 |
-2.294 | 0.988 | N | 0.709 | 0.46 | 0.486060746414 | gnomAD-4.0.0 | 4.79008E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29708E-06 | 0 | 0 |
| E/K | None | None | 0.919 | N | 0.596 | 0.303 | 0.28492961333 | gnomAD-4.0.0 | 6.84298E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99578E-07 | 0 | 0 |
| E/Q | None | None | 0.958 | N | 0.631 | 0.29 | 0.208000267992 | gnomAD-4.0.0 | 2.73719E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59831E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.5721 | likely_pathogenic | 0.5502 | ambiguous | -0.799 | Destabilizing | 0.958 | D | 0.589 | neutral | N | 0.484601649 | None | None | N |
| E/C | 0.9553 | likely_pathogenic | 0.9547 | pathogenic | -0.121 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| E/D | 0.5792 | likely_pathogenic | 0.561 | ambiguous | -1.34 | Destabilizing | 0.979 | D | 0.559 | neutral | N | 0.480424593 | None | None | N |
| E/F | 0.9796 | likely_pathogenic | 0.9782 | pathogenic | -0.342 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| E/G | 0.8329 | likely_pathogenic | 0.8035 | pathogenic | -1.258 | Destabilizing | 0.988 | D | 0.709 | prob.delet. | N | 0.512113653 | None | None | N |
| E/H | 0.9266 | likely_pathogenic | 0.9161 | pathogenic | -0.369 | Destabilizing | 0.999 | D | 0.71 | prob.delet. | None | None | None | None | N |
| E/I | 0.8383 | likely_pathogenic | 0.8297 | pathogenic | 0.508 | Stabilizing | 0.995 | D | 0.809 | deleterious | None | None | None | None | N |
| E/K | 0.8104 | likely_pathogenic | 0.7742 | pathogenic | -0.64 | Destabilizing | 0.919 | D | 0.596 | neutral | N | 0.497471598 | None | None | N |
| E/L | 0.9114 | likely_pathogenic | 0.9055 | pathogenic | 0.508 | Stabilizing | 0.991 | D | 0.739 | prob.delet. | None | None | None | None | N |
| E/M | 0.8675 | likely_pathogenic | 0.853 | pathogenic | 1.192 | Stabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| E/N | 0.8417 | likely_pathogenic | 0.8272 | pathogenic | -1.105 | Destabilizing | 0.991 | D | 0.687 | prob.neutral | None | None | None | None | N |
| E/P | 0.9981 | likely_pathogenic | 0.9977 | pathogenic | 0.09 | Stabilizing | 0.998 | D | 0.759 | deleterious | None | None | None | None | N |
| E/Q | 0.3894 | ambiguous | 0.3533 | ambiguous | -0.753 | Destabilizing | 0.958 | D | 0.631 | neutral | N | 0.48283022 | None | None | N |
| E/R | 0.861 | likely_pathogenic | 0.8347 | pathogenic | -0.622 | Destabilizing | 0.18 | N | 0.366 | neutral | None | None | None | None | N |
| E/S | 0.6724 | likely_pathogenic | 0.6513 | pathogenic | -1.727 | Destabilizing | 0.968 | D | 0.589 | neutral | None | None | None | None | N |
| E/T | 0.7844 | likely_pathogenic | 0.769 | pathogenic | -1.286 | Destabilizing | 0.991 | D | 0.721 | prob.delet. | None | None | None | None | N |
| E/V | 0.6865 | likely_pathogenic | 0.6723 | pathogenic | 0.09 | Stabilizing | 0.994 | D | 0.743 | deleterious | N | 0.504109569 | None | None | N |
| E/W | 0.9946 | likely_pathogenic | 0.9937 | pathogenic | -0.388 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| E/Y | 0.9623 | likely_pathogenic | 0.9586 | pathogenic | -0.087 | Destabilizing | 0.998 | D | 0.783 | 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.