Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8857 | 26794;26795;26796 | chr2:178714089;178714088;178714087 | chr2:179578816;179578815;179578814 |
| N2AB | 8540 | 25843;25844;25845 | chr2:178714089;178714088;178714087 | chr2:179578816;179578815;179578814 |
| N2A | 7613 | 23062;23063;23064 | chr2:178714089;178714088;178714087 | chr2:179578816;179578815;179578814 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/S | rs1317672432  |
0.082 | 1.0 | D | 0.659 | 0.777 | 0.558889990735 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.65E-05 | 0 | 0 |
| P/S | rs1317672432 |
0.082 | 1.0 | D | 0.659 | 0.777 | 0.558889990735 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 9.42E-05 | 0 | 0 | 0 | 0 |
| P/S | rs1317672432 |
0.082 | 1.0 | D | 0.659 | 0.777 | 0.558889990735 | gnomAD-4.0.0 | 3.84438E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 4.70898E-05 | 0 | 0 | 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 | 0.3951 | ambiguous | 0.4644 | ambiguous | -0.322 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | N | 0.519816104 | None | None | I |
| P/C | 0.9105 | likely_pathogenic | 0.9421 | pathogenic | -0.546 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | I |
| P/D | 0.8876 | likely_pathogenic | 0.9171 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.648 | neutral | None | None | None | None | I |
| P/E | 0.72 | likely_pathogenic | 0.7742 | pathogenic | -0.534 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | I |
| P/F | 0.928 | likely_pathogenic | 0.9483 | pathogenic | -0.673 | Destabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | I |
| P/G | 0.7427 | likely_pathogenic | 0.7984 | pathogenic | -0.414 | Destabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | I |
| P/H | 0.7229 | likely_pathogenic | 0.7736 | pathogenic | -0.019 | Destabilizing | 1.0 | D | 0.617 | neutral | D | 0.594133918 | None | None | I |
| P/I | 0.7766 | likely_pathogenic | 0.8118 | pathogenic | -0.228 | Destabilizing | 1.0 | D | 0.646 | neutral | None | None | None | None | I |
| P/K | 0.7532 | likely_pathogenic | 0.7887 | pathogenic | -0.36 | Destabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | I |
| P/L | 0.4521 | ambiguous | 0.5136 | ambiguous | -0.228 | Destabilizing | 1.0 | D | 0.629 | neutral | D | 0.582293521 | None | None | I |
| P/M | 0.7284 | likely_pathogenic | 0.7838 | pathogenic | -0.396 | Destabilizing | 1.0 | D | 0.623 | neutral | None | None | None | None | I |
| P/N | 0.8598 | likely_pathogenic | 0.8963 | pathogenic | -0.064 | Destabilizing | 1.0 | D | 0.63 | neutral | None | None | None | None | I |
| P/Q | 0.6051 | likely_pathogenic | 0.6623 | pathogenic | -0.32 | Destabilizing | 1.0 | D | 0.648 | neutral | None | None | None | None | I |
| P/R | 0.6031 | likely_pathogenic | 0.6539 | pathogenic | 0.145 | Stabilizing | 1.0 | D | 0.627 | neutral | D | 0.587229699 | None | None | I |
| P/S | 0.5895 | likely_pathogenic | 0.6677 | pathogenic | -0.353 | Destabilizing | 1.0 | D | 0.659 | neutral | D | 0.533627944 | None | None | I |
| P/T | 0.4117 | ambiguous | 0.4842 | ambiguous | -0.385 | Destabilizing | 1.0 | D | 0.653 | neutral | D | 0.577710948 | None | None | I |
| P/V | 0.6314 | likely_pathogenic | 0.6736 | pathogenic | -0.227 | Destabilizing | 1.0 | D | 0.623 | neutral | None | None | None | None | I |
| P/W | 0.9394 | likely_pathogenic | 0.9592 | pathogenic | -0.752 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | None | I |
| P/Y | 0.9021 | likely_pathogenic | 0.9285 | pathogenic | -0.451 | Destabilizing | 1.0 | D | 0.653 | neutral | 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.