Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28426 | 85501;85502;85503 | chr2:178560856;178560855;178560854 | chr2:179425583;179425582;179425581 |
| N2AB | 26785 | 80578;80579;80580 | chr2:178560856;178560855;178560854 | chr2:179425583;179425582;179425581 |
| N2A | 25858 | 77797;77798;77799 | chr2:178560856;178560855;178560854 | chr2:179425583;179425582;179425581 |
| N2B | 19361 | 58306;58307;58308 | chr2:178560856;178560855;178560854 | chr2:179425583;179425582;179425581 |
| Novex-1 | 19486 | 58681;58682;58683 | chr2:178560856;178560855;178560854 | chr2:179425583;179425582;179425581 |
| Novex-2 | 19553 | 58882;58883;58884 | chr2:178560856;178560855;178560854 | chr2:179425583;179425582;179425581 |
| 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/R | None | None | 1.0 | D | 0.805 | 0.738 | 0.89437755456 | gnomAD-4.0.0 | 1.59162E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85822E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5016 | ambiguous | 0.5557 | ambiguous | -0.867 | Destabilizing | 1.0 | D | 0.772 | deleterious | D | 0.561004017 | None | None | I |
| G/C | 0.843 | likely_pathogenic | 0.8531 | pathogenic | -1.05 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | I |
| G/D | 0.9447 | likely_pathogenic | 0.9448 | pathogenic | -1.669 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/E | 0.9608 | likely_pathogenic | 0.956 | pathogenic | -1.753 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.642765258 | None | None | I |
| G/F | 0.9892 | likely_pathogenic | 0.9877 | pathogenic | -1.371 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| G/H | 0.9805 | likely_pathogenic | 0.9782 | pathogenic | -1.413 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| G/I | 0.9839 | likely_pathogenic | 0.9825 | pathogenic | -0.578 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | I |
| G/K | 0.9695 | likely_pathogenic | 0.9644 | pathogenic | -1.371 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/L | 0.9777 | likely_pathogenic | 0.9771 | pathogenic | -0.578 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | I |
| G/M | 0.9844 | likely_pathogenic | 0.9843 | pathogenic | -0.338 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | I |
| G/N | 0.9563 | likely_pathogenic | 0.9523 | pathogenic | -1.068 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/P | 0.9986 | likely_pathogenic | 0.9981 | pathogenic | -0.636 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/Q | 0.9479 | likely_pathogenic | 0.9416 | pathogenic | -1.328 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| G/R | 0.9074 | likely_pathogenic | 0.8998 | pathogenic | -0.946 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.642563454 | None | None | I |
| G/S | 0.4689 | ambiguous | 0.4902 | ambiguous | -1.259 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | I |
| G/T | 0.9116 | likely_pathogenic | 0.9129 | pathogenic | -1.277 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| G/V | 0.9523 | likely_pathogenic | 0.9528 | pathogenic | -0.636 | Destabilizing | 1.0 | D | 0.763 | deleterious | D | 0.642765258 | None | None | I |
| G/W | 0.9804 | likely_pathogenic | 0.9771 | pathogenic | -1.681 | Destabilizing | 1.0 | D | 0.749 | deleterious | D | 0.642967063 | None | None | I |
| G/Y | 0.9858 | likely_pathogenic | 0.9841 | pathogenic | -1.302 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | I |
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.