Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24370 | 73333;73334;73335 | chr2:178573024;178573023;178573022 | chr2:179437751;179437750;179437749 |
| N2AB | 22729 | 68410;68411;68412 | chr2:178573024;178573023;178573022 | chr2:179437751;179437750;179437749 |
| N2A | 21802 | 65629;65630;65631 | chr2:178573024;178573023;178573022 | chr2:179437751;179437750;179437749 |
| N2B | 15305 | 46138;46139;46140 | chr2:178573024;178573023;178573022 | chr2:179437751;179437750;179437749 |
| Novex-1 | 15430 | 46513;46514;46515 | chr2:178573024;178573023;178573022 | chr2:179437751;179437750;179437749 |
| Novex-2 | 15497 | 46714;46715;46716 | chr2:178573024;178573023;178573022 | chr2:179437751;179437750;179437749 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | rs1261582084  |
None | 1.0 | N | 0.653 | 0.484 | 0.540743726455 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| W/C | rs1261582084 |
None | 1.0 | N | 0.653 | 0.484 | 0.540743726455 | gnomAD-4.0.0 | 1.23999E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69574E-05 | 0 | 0 |
| W/R | rs879236420 |
-0.52 | 1.0 | N | 0.704 | 0.606 | 0.63676537582 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| W/R | rs879236420 |
-0.52 | 1.0 | N | 0.704 | 0.606 | 0.63676537582 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| W/R | rs879236420 |
-0.52 | 1.0 | N | 0.704 | 0.606 | 0.63676537582 | gnomAD-4.0.0 | 6.57531E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9515 | likely_pathogenic | 0.9366 | pathogenic | -3.206 | Highly Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| W/C | 0.9806 | likely_pathogenic | 0.9716 | pathogenic | -1.33 | Destabilizing | 1.0 | D | 0.653 | neutral | N | 0.513708771 | None | None | N |
| W/D | 0.9855 | likely_pathogenic | 0.9824 | pathogenic | -2.182 | Highly Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| W/E | 0.9877 | likely_pathogenic | 0.9838 | pathogenic | -2.127 | Highly Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| W/F | 0.5047 | ambiguous | 0.5016 | ambiguous | -2.007 | Highly Destabilizing | 1.0 | D | 0.611 | neutral | None | None | None | None | N |
| W/G | 0.8276 | likely_pathogenic | 0.7984 | pathogenic | -3.393 | Highly Destabilizing | 1.0 | D | 0.657 | neutral | N | 0.516315664 | None | None | N |
| W/H | 0.9655 | likely_pathogenic | 0.9623 | pathogenic | -1.729 | Destabilizing | 1.0 | D | 0.639 | neutral | None | None | None | None | N |
| W/I | 0.9357 | likely_pathogenic | 0.9104 | pathogenic | -2.512 | Highly Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| W/K | 0.9924 | likely_pathogenic | 0.9901 | pathogenic | -1.612 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| W/L | 0.8566 | likely_pathogenic | 0.8285 | pathogenic | -2.512 | Highly Destabilizing | 1.0 | D | 0.657 | neutral | N | 0.505831505 | None | None | N |
| W/M | 0.9397 | likely_pathogenic | 0.9274 | pathogenic | -1.877 | Destabilizing | 1.0 | D | 0.616 | neutral | None | None | None | None | N |
| W/N | 0.9775 | likely_pathogenic | 0.9738 | pathogenic | -1.889 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | None | None | None | None | N |
| W/P | 0.9581 | likely_pathogenic | 0.9528 | pathogenic | -2.761 | Highly Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| W/Q | 0.9917 | likely_pathogenic | 0.9898 | pathogenic | -1.972 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| W/R | 0.9907 | likely_pathogenic | 0.9883 | pathogenic | -0.916 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | N | 0.520835114 | None | None | N |
| W/S | 0.9173 | likely_pathogenic | 0.9021 | pathogenic | -2.295 | Highly Destabilizing | 1.0 | D | 0.714 | prob.delet. | N | 0.506338484 | None | None | N |
| W/T | 0.9425 | likely_pathogenic | 0.9254 | pathogenic | -2.189 | Highly Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| W/V | 0.9365 | likely_pathogenic | 0.9109 | pathogenic | -2.761 | Highly Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| W/Y | 0.7321 | likely_pathogenic | 0.7192 | pathogenic | -1.815 | Destabilizing | 1.0 | D | 0.549 | neutral | 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.