Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6753 | 20482;20483;20484 | chr2:178727108;178727107;178727106 | chr2:179591835;179591834;179591833 |
| N2AB | 6436 | 19531;19532;19533 | chr2:178727108;178727107;178727106 | chr2:179591835;179591834;179591833 |
| N2A | 5509 | 16750;16751;16752 | chr2:178727108;178727107;178727106 | chr2:179591835;179591834;179591833 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | 0.006 | N | 0.237 | 0.179 | 0.126345400529 | gnomAD-4.0.0 | 1.39316E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.82376E-06 | 0 | 0 |
| T/S | rs1465298575  |
-1.562 | 0.001 | N | 0.169 | 0.131 | 0.141422826196 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14784E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/S | rs1465298575 |
-1.562 | 0.001 | N | 0.169 | 0.131 | 0.141422826196 | 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/S | rs1465298575 |
-1.562 | 0.001 | N | 0.169 | 0.131 | 0.141422826196 | gnomAD-4.0.0 | 3.14912E-06 | None | None | None | None | N | None | 1.34539E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.43455E-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 | 0.0808 | likely_benign | 0.0877 | benign | -1.365 | Destabilizing | 0.006 | N | 0.237 | neutral | N | 0.438642299 | None | None | N |
| T/C | 0.5361 | ambiguous | 0.5088 | ambiguous | -1.242 | Destabilizing | 0.995 | D | 0.729 | prob.delet. | None | None | None | None | N |
| T/D | 0.8292 | likely_pathogenic | 0.9227 | pathogenic | -1.386 | Destabilizing | 0.728 | D | 0.765 | deleterious | None | None | None | None | N |
| T/E | 0.6998 | likely_pathogenic | 0.8574 | pathogenic | -1.226 | Destabilizing | 0.975 | D | 0.755 | deleterious | None | None | None | None | N |
| T/F | 0.5067 | ambiguous | 0.6641 | pathogenic | -1.251 | Destabilizing | 0.997 | D | 0.783 | deleterious | None | None | None | None | N |
| T/G | 0.3075 | likely_benign | 0.3225 | benign | -1.732 | Destabilizing | 0.762 | D | 0.703 | prob.neutral | None | None | None | None | N |
| T/H | 0.657 | likely_pathogenic | 0.8078 | pathogenic | -1.84 | Destabilizing | 0.939 | D | 0.741 | deleterious | None | None | None | None | N |
| T/I | 0.2787 | likely_benign | 0.4039 | ambiguous | -0.419 | Destabilizing | 0.048 | N | 0.459 | neutral | N | 0.481185142 | None | None | N |
| T/K | 0.6614 | likely_pathogenic | 0.846 | pathogenic | -0.692 | Destabilizing | 0.982 | D | 0.758 | deleterious | None | None | None | None | N |
| T/L | 0.1794 | likely_benign | 0.2488 | benign | -0.419 | Destabilizing | 0.951 | D | 0.666 | neutral | None | None | None | None | N |
| T/M | 0.1337 | likely_benign | 0.1567 | benign | -0.335 | Destabilizing | 0.993 | D | 0.749 | deleterious | None | None | None | None | N |
| T/N | 0.3554 | ambiguous | 0.4779 | ambiguous | -1.271 | Destabilizing | 0.503 | D | 0.703 | prob.neutral | N | 0.505064486 | None | None | N |
| T/P | 0.7767 | likely_pathogenic | 0.8562 | pathogenic | -0.704 | Destabilizing | 0.804 | D | 0.757 | deleterious | N | 0.505317975 | None | None | N |
| T/Q | 0.5314 | ambiguous | 0.6845 | pathogenic | -1.204 | Destabilizing | 0.854 | D | 0.784 | deleterious | None | None | None | None | N |
| T/R | 0.5434 | ambiguous | 0.7521 | pathogenic | -0.741 | Destabilizing | 0.999 | D | 0.764 | deleterious | None | None | None | None | N |
| T/S | 0.1352 | likely_benign | 0.1543 | benign | -1.568 | Destabilizing | 0.001 | N | 0.169 | neutral | N | 0.464332965 | None | None | N |
| T/V | 0.1854 | likely_benign | 0.2427 | benign | -0.704 | Destabilizing | 0.575 | D | 0.599 | neutral | None | None | None | None | N |
| T/W | 0.8447 | likely_pathogenic | 0.9254 | pathogenic | -1.248 | Destabilizing | 0.999 | D | 0.753 | deleterious | None | None | None | None | N |
| T/Y | 0.6243 | likely_pathogenic | 0.795 | pathogenic | -0.915 | Destabilizing | 0.994 | D | 0.773 | 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.