Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26870 | 80833;80834;80835 | chr2:178565524;178565523;178565522 | chr2:179430251;179430250;179430249 |
| N2AB | 25229 | 75910;75911;75912 | chr2:178565524;178565523;178565522 | chr2:179430251;179430250;179430249 |
| N2A | 24302 | 73129;73130;73131 | chr2:178565524;178565523;178565522 | chr2:179430251;179430250;179430249 |
| N2B | 17805 | 53638;53639;53640 | chr2:178565524;178565523;178565522 | chr2:179430251;179430250;179430249 |
| Novex-1 | 17930 | 54013;54014;54015 | chr2:178565524;178565523;178565522 | chr2:179430251;179430250;179430249 |
| Novex-2 | 17997 | 54214;54215;54216 | chr2:178565524;178565523;178565522 | chr2:179430251;179430250;179430249 |
| 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/T | rs397517718  |
-0.911 | 1.0 | N | 0.879 | 0.46 | 0.642435311918 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| P/T | rs397517718 |
-0.911 | 1.0 | N | 0.879 | 0.46 | 0.642435311918 | gnomAD-4.0.0 | 7.52746E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.09629E-06 | 0 | 3.31389E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.133 | likely_benign | 0.1277 | benign | -0.902 | Destabilizing | 0.998 | D | 0.846 | deleterious | N | 0.487753017 | None | None | N |
| P/C | 0.7659 | likely_pathogenic | 0.7616 | pathogenic | -0.768 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| P/D | 0.7175 | likely_pathogenic | 0.704 | pathogenic | -0.76 | Destabilizing | 0.999 | D | 0.897 | deleterious | None | None | None | None | N |
| P/E | 0.6051 | likely_pathogenic | 0.5846 | pathogenic | -0.809 | Destabilizing | 0.999 | D | 0.886 | deleterious | None | None | None | None | N |
| P/F | 0.8004 | likely_pathogenic | 0.7738 | pathogenic | -0.751 | Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | N |
| P/G | 0.5422 | ambiguous | 0.5424 | ambiguous | -1.133 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| P/H | 0.4365 | ambiguous | 0.4348 | ambiguous | -0.601 | Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.529027636 | None | None | N |
| P/I | 0.6468 | likely_pathogenic | 0.6223 | pathogenic | -0.404 | Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | N |
| P/K | 0.67 | likely_pathogenic | 0.6908 | pathogenic | -0.904 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| P/L | 0.2757 | likely_benign | 0.263 | benign | -0.404 | Destabilizing | 1.0 | D | 0.909 | deleterious | N | 0.506680193 | None | None | N |
| P/M | 0.5584 | ambiguous | 0.5572 | ambiguous | -0.473 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/N | 0.5468 | ambiguous | 0.5414 | ambiguous | -0.685 | Destabilizing | 1.0 | D | 0.931 | deleterious | None | None | None | None | N |
| P/Q | 0.4025 | ambiguous | 0.3968 | ambiguous | -0.877 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| P/R | 0.4981 | ambiguous | 0.5062 | ambiguous | -0.355 | Destabilizing | 1.0 | D | 0.929 | deleterious | D | 0.528267168 | None | None | N |
| P/S | 0.2133 | likely_benign | 0.2089 | benign | -1.09 | Destabilizing | 1.0 | D | 0.885 | deleterious | N | 0.498299628 | None | None | N |
| P/T | 0.1979 | likely_benign | 0.19 | benign | -1.035 | Destabilizing | 1.0 | D | 0.879 | deleterious | N | 0.496475976 | None | None | N |
| P/V | 0.4455 | ambiguous | 0.4331 | ambiguous | -0.535 | Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | N |
| P/W | 0.8785 | likely_pathogenic | 0.8727 | pathogenic | -0.883 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/Y | 0.7756 | likely_pathogenic | 0.7597 | pathogenic | -0.601 | Destabilizing | 1.0 | D | 0.919 | 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.