Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33393 | 100402;100403;100404 | chr2:178536570;178536569;178536568 | chr2:179401297;179401296;179401295 |
| N2AB | 31752 | 95479;95480;95481 | chr2:178536570;178536569;178536568 | chr2:179401297;179401296;179401295 |
| N2A | 30825 | 92698;92699;92700 | chr2:178536570;178536569;178536568 | chr2:179401297;179401296;179401295 |
| N2B | 24328 | 73207;73208;73209 | chr2:178536570;178536569;178536568 | chr2:179401297;179401296;179401295 |
| Novex-1 | 24453 | 73582;73583;73584 | chr2:178536570;178536569;178536568 | chr2:179401297;179401296;179401295 |
| Novex-2 | 24520 | 73783;73784;73785 | chr2:178536570;178536569;178536568 | chr2:179401297;179401296;179401295 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs1339535549  |
None | 1.0 | D | 0.826 | 0.568 | 0.792447462068 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs1339535549 |
None | 1.0 | D | 0.826 | 0.568 | 0.792447462068 | gnomAD-4.0.0 | 6.57367E-06 | None | None | None | None | N | None | 2.41453E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | None | None | 1.0 | D | 0.757 | 0.564 | 0.463501289208 | gnomAD-4.0.0 | 1.49522E-06 | None | None | None | None | N | None | 3.35864E-05 | 3.97078E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | None | None | 1.0 | D | 0.763 | 0.594 | 0.639007618878 | gnomAD-4.0.0 | 7.47612E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.45101E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.5156 | ambiguous | 0.5876 | pathogenic | -1.168 | Destabilizing | 0.999 | D | 0.801 | deleterious | N | 0.518575795 | None | None | N |
| P/C | 0.9645 | likely_pathogenic | 0.9713 | pathogenic | -1.887 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| P/D | 0.9968 | likely_pathogenic | 0.9977 | pathogenic | -3.032 | Highly Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| P/E | 0.9889 | likely_pathogenic | 0.9925 | pathogenic | -3.015 | Highly Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| P/F | 0.9971 | likely_pathogenic | 0.9981 | pathogenic | -1.146 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| P/G | 0.9625 | likely_pathogenic | 0.9727 | pathogenic | -1.433 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| P/H | 0.9905 | likely_pathogenic | 0.9933 | pathogenic | -0.932 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| P/I | 0.9434 | likely_pathogenic | 0.9621 | pathogenic | -0.524 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| P/K | 0.9935 | likely_pathogenic | 0.9956 | pathogenic | -1.292 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| P/L | 0.8829 | likely_pathogenic | 0.9163 | pathogenic | -0.524 | Destabilizing | 1.0 | D | 0.826 | deleterious | D | 0.536173071 | None | None | N |
| P/M | 0.977 | likely_pathogenic | 0.9836 | pathogenic | -0.724 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| P/N | 0.9944 | likely_pathogenic | 0.9957 | pathogenic | -1.586 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| P/Q | 0.9803 | likely_pathogenic | 0.9866 | pathogenic | -1.836 | Destabilizing | 1.0 | D | 0.83 | deleterious | D | 0.549050313 | None | None | N |
| P/R | 0.9807 | likely_pathogenic | 0.9869 | pathogenic | -0.781 | Destabilizing | 1.0 | D | 0.82 | deleterious | D | 0.537187029 | None | None | N |
| P/S | 0.9266 | likely_pathogenic | 0.9447 | pathogenic | -1.858 | Destabilizing | 1.0 | D | 0.757 | deleterious | D | 0.547782866 | None | None | N |
| P/T | 0.8528 | likely_pathogenic | 0.8942 | pathogenic | -1.745 | Destabilizing | 1.0 | D | 0.763 | deleterious | D | 0.548543334 | None | None | N |
| P/V | 0.8686 | likely_pathogenic | 0.906 | pathogenic | -0.71 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| P/W | 0.999 | likely_pathogenic | 0.9993 | pathogenic | -1.432 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| P/Y | 0.9973 | likely_pathogenic | 0.998 | pathogenic | -1.029 | Destabilizing | 1.0 | D | 0.834 | 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.