Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28493 | 85702;85703;85704 | chr2:178560655;178560654;178560653 | chr2:179425382;179425381;179425380 |
| N2AB | 26852 | 80779;80780;80781 | chr2:178560655;178560654;178560653 | chr2:179425382;179425381;179425380 |
| N2A | 25925 | 77998;77999;78000 | chr2:178560655;178560654;178560653 | chr2:179425382;179425381;179425380 |
| N2B | 19428 | 58507;58508;58509 | chr2:178560655;178560654;178560653 | chr2:179425382;179425381;179425380 |
| Novex-1 | 19553 | 58882;58883;58884 | chr2:178560655;178560654;178560653 | chr2:179425382;179425381;179425380 |
| Novex-2 | 19620 | 59083;59084;59085 | chr2:178560655;178560654;178560653 | chr2:179425382;179425381;179425380 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs369907507  |
-1.17 | 0.999 | N | 0.549 | 0.43 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| T/A | rs369907507 |
-1.17 | 0.999 | N | 0.549 | 0.43 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| T/A | rs369907507 |
-1.17 | 0.999 | N | 0.549 | 0.43 | None | gnomAD-4.0.0 | 4.40021E-05 | None | None | None | None | N | None | 1.33451E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 5.84851E-05 | 0 | 1.60128E-05 |
| T/K | rs1703288626 |
None | 1.0 | N | 0.712 | 0.407 | 0.48286525802 | 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 |
| T/K | rs1703288626 |
None | 1.0 | N | 0.712 | 0.407 | 0.48286525802 | gnomAD-4.0.0 | 3.84433E-06 | None | None | None | None | N | None | 1.69159E-05 | 0 | None | 0 | 0 | None | 1.57228E-05 | 0 | 2.39305E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.172 | likely_benign | 0.1626 | benign | -0.711 | Destabilizing | 0.999 | D | 0.549 | neutral | N | 0.517094722 | None | None | N |
| T/C | 0.7643 | likely_pathogenic | 0.7922 | pathogenic | -0.467 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | N |
| T/D | 0.7433 | likely_pathogenic | 0.7466 | pathogenic | -0.061 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| T/E | 0.6843 | likely_pathogenic | 0.6824 | pathogenic | -0.076 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| T/F | 0.6878 | likely_pathogenic | 0.6938 | pathogenic | -0.79 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| T/G | 0.5473 | ambiguous | 0.5314 | ambiguous | -0.952 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| T/H | 0.6908 | likely_pathogenic | 0.69 | pathogenic | -1.16 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | N |
| T/I | 0.4187 | ambiguous | 0.4177 | ambiguous | -0.168 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | N | 0.47278759 | None | None | N |
| T/K | 0.4277 | ambiguous | 0.4105 | ambiguous | -0.716 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | N | 0.510475394 | None | None | N |
| T/L | 0.2239 | likely_benign | 0.23 | benign | -0.168 | Destabilizing | 0.999 | D | 0.613 | neutral | None | None | None | None | N |
| T/M | 0.1534 | likely_benign | 0.1475 | benign | 0.03 | Stabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | N |
| T/N | 0.3047 | likely_benign | 0.3046 | benign | -0.587 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| T/P | 0.3279 | likely_benign | 0.3041 | benign | -0.317 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | N | 0.521809895 | None | None | N |
| T/Q | 0.5481 | ambiguous | 0.5171 | ambiguous | -0.759 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| T/R | 0.3978 | ambiguous | 0.3835 | ambiguous | -0.435 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | N | 0.478218866 | None | None | N |
| T/S | 0.2406 | likely_benign | 0.2249 | benign | -0.873 | Destabilizing | 0.999 | D | 0.572 | neutral | N | 0.484136942 | None | None | N |
| T/V | 0.3034 | likely_benign | 0.2988 | benign | -0.317 | Destabilizing | 0.999 | D | 0.619 | neutral | None | None | None | None | N |
| T/W | 0.9199 | likely_pathogenic | 0.9241 | pathogenic | -0.724 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| T/Y | 0.7141 | likely_pathogenic | 0.7235 | pathogenic | -0.503 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | 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.