Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22089 | 66490;66491;66492 | chr2:178582104;178582103;178582102 | chr2:179446831;179446830;179446829 |
| N2AB | 20448 | 61567;61568;61569 | chr2:178582104;178582103;178582102 | chr2:179446831;179446830;179446829 |
| N2A | 19521 | 58786;58787;58788 | chr2:178582104;178582103;178582102 | chr2:179446831;179446830;179446829 |
| N2B | 13024 | 39295;39296;39297 | chr2:178582104;178582103;178582102 | chr2:179446831;179446830;179446829 |
| Novex-1 | 13149 | 39670;39671;39672 | chr2:178582104;178582103;178582102 | chr2:179446831;179446830;179446829 |
| Novex-2 | 13216 | 39871;39872;39873 | chr2:178582104;178582103;178582102 | chr2:179446831;179446830;179446829 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/S | rs2047909091  |
None | 0.999 | N | 0.697 | 0.418 | 0.397391247328 | gnomAD-4.0.0 | 4.77893E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.55093E-05 | None | 0 | 0 | 0 | 0 | 3.02572E-05 |
| G/V | None | None | 0.777 | D | 0.699 | 0.451 | 0.616972202741 | gnomAD-4.0.0 | 1.59306E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02554E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6189 | likely_pathogenic | 0.4771 | ambiguous | -0.192 | Destabilizing | 0.991 | D | 0.62 | neutral | N | 0.49153109 | None | None | N |
| G/C | 0.8507 | likely_pathogenic | 0.7396 | pathogenic | -0.229 | Destabilizing | 1.0 | D | 0.855 | deleterious | N | 0.513549366 | None | None | N |
| G/D | 0.9729 | likely_pathogenic | 0.9365 | pathogenic | -1.211 | Destabilizing | 1.0 | D | 0.846 | deleterious | N | 0.494747094 | None | None | N |
| G/E | 0.9808 | likely_pathogenic | 0.9581 | pathogenic | -1.082 | Destabilizing | 0.999 | D | 0.866 | deleterious | None | None | None | None | N |
| G/F | 0.9912 | likely_pathogenic | 0.9811 | pathogenic | -0.278 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| G/H | 0.9681 | likely_pathogenic | 0.9345 | pathogenic | -1.374 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| G/I | 0.9919 | likely_pathogenic | 0.9822 | pathogenic | 0.703 | Stabilizing | 0.998 | D | 0.869 | deleterious | None | None | None | None | N |
| G/K | 0.9941 | likely_pathogenic | 0.9866 | pathogenic | -0.548 | Destabilizing | 0.999 | D | 0.872 | deleterious | None | None | None | None | N |
| G/L | 0.9883 | likely_pathogenic | 0.9772 | pathogenic | 0.703 | Stabilizing | 0.998 | D | 0.835 | deleterious | None | None | None | None | N |
| G/M | 0.9887 | likely_pathogenic | 0.9767 | pathogenic | 0.473 | Stabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| G/N | 0.9099 | likely_pathogenic | 0.8531 | pathogenic | -0.656 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| G/P | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | 0.449 | Stabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| G/Q | 0.9692 | likely_pathogenic | 0.9402 | pathogenic | -0.511 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| G/R | 0.9771 | likely_pathogenic | 0.9548 | pathogenic | -0.755 | Destabilizing | 0.999 | D | 0.884 | deleterious | N | 0.486237944 | None | None | N |
| G/S | 0.5367 | ambiguous | 0.3531 | ambiguous | -0.942 | Destabilizing | 0.999 | D | 0.697 | prob.neutral | N | 0.517233582 | None | None | N |
| G/T | 0.9311 | likely_pathogenic | 0.8438 | pathogenic | -0.711 | Destabilizing | 0.999 | D | 0.871 | deleterious | None | None | None | None | N |
| G/V | 0.9796 | likely_pathogenic | 0.9565 | pathogenic | 0.449 | Stabilizing | 0.777 | D | 0.699 | prob.neutral | D | 0.532854935 | None | None | N |
| G/W | 0.981 | likely_pathogenic | 0.9632 | pathogenic | -1.101 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/Y | 0.9691 | likely_pathogenic | 0.9401 | pathogenic | -0.412 | Destabilizing | 1.0 | D | 0.886 | 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.