Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18454 | 55585;55586;55587 | chr2:178601730;178601729;178601728 | chr2:179466457;179466456;179466455 |
| N2AB | 16813 | 50662;50663;50664 | chr2:178601730;178601729;178601728 | chr2:179466457;179466456;179466455 |
| N2A | 15886 | 47881;47882;47883 | chr2:178601730;178601729;178601728 | chr2:179466457;179466456;179466455 |
| N2B | 9389 | 28390;28391;28392 | chr2:178601730;178601729;178601728 | chr2:179466457;179466456;179466455 |
| Novex-1 | 9514 | 28765;28766;28767 | chr2:178601730;178601729;178601728 | chr2:179466457;179466456;179466455 |
| Novex-2 | 9581 | 28966;28967;28968 | chr2:178601730;178601729;178601728 | chr2:179466457;179466456;179466455 |
| 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 | 0.002 | N | 0.253 | 0.066 | 0.0920862733494 | gnomAD-4.0.0 | 6.85952E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00361E-07 | 0 | 0 |
| T/I | rs1171368715  |
-0.195 | 0.055 | N | 0.502 | 0.204 | 0.30921473904 | gnomAD-2.1.1 | 4.08E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.98E-06 | 0 |
| T/I | rs1171368715 |
-0.195 | 0.055 | N | 0.502 | 0.204 | 0.30921473904 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| T/I | rs1171368715 |
-0.195 | 0.055 | N | 0.502 | 0.204 | 0.30921473904 | gnomAD-4.0.0 | 1.92576E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54535E-05 | 0 | 1.6056E-05 |
| T/R | None | None | 0.055 | N | 0.499 | 0.182 | 0.343334270461 | gnomAD-4.0.0 | 6.8599E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.0038E-07 | 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 | 0.0913 | likely_benign | 0.0991 | benign | -1.326 | Destabilizing | 0.002 | N | 0.253 | neutral | N | 0.435932855 | None | None | I |
| T/C | 0.2873 | likely_benign | 0.4183 | ambiguous | -0.937 | Destabilizing | 0.356 | N | 0.523 | neutral | None | None | None | None | I |
| T/D | 0.6248 | likely_pathogenic | 0.6642 | pathogenic | -0.906 | Destabilizing | 0.016 | N | 0.477 | neutral | None | None | None | None | I |
| T/E | 0.6065 | likely_pathogenic | 0.6337 | pathogenic | -0.778 | Destabilizing | 0.016 | N | 0.455 | neutral | None | None | None | None | I |
| T/F | 0.4638 | ambiguous | 0.5511 | ambiguous | -1.07 | Destabilizing | 0.356 | N | 0.567 | neutral | None | None | None | None | I |
| T/G | 0.1548 | likely_benign | 0.1819 | benign | -1.676 | Destabilizing | 0.007 | N | 0.381 | neutral | None | None | None | None | I |
| T/H | 0.3458 | ambiguous | 0.4461 | ambiguous | -1.665 | Destabilizing | 0.356 | N | 0.527 | neutral | None | None | None | None | I |
| T/I | 0.526 | ambiguous | 0.6126 | pathogenic | -0.431 | Destabilizing | 0.055 | N | 0.502 | neutral | N | 0.486748464 | None | None | I |
| T/K | 0.541 | ambiguous | 0.5847 | pathogenic | -0.66 | Destabilizing | 0.012 | N | 0.469 | neutral | N | 0.492826288 | None | None | I |
| T/L | 0.2268 | likely_benign | 0.2819 | benign | -0.431 | Destabilizing | 0.031 | N | 0.468 | neutral | None | None | None | None | I |
| T/M | 0.1559 | likely_benign | 0.1815 | benign | -0.323 | Destabilizing | 0.628 | D | 0.535 | neutral | None | None | None | None | I |
| T/N | 0.1907 | likely_benign | 0.2162 | benign | -1.013 | Destabilizing | 0.016 | N | 0.45 | neutral | None | None | None | None | I |
| T/P | 0.702 | likely_pathogenic | 0.721 | pathogenic | -0.699 | Destabilizing | 0.055 | N | 0.503 | neutral | D | 0.523919986 | None | None | I |
| T/Q | 0.3882 | ambiguous | 0.4346 | ambiguous | -1.01 | Destabilizing | 0.072 | N | 0.513 | neutral | None | None | None | None | I |
| T/R | 0.4496 | ambiguous | 0.49 | ambiguous | -0.599 | Destabilizing | 0.055 | N | 0.499 | neutral | N | 0.464236964 | None | None | I |
| T/S | 0.0632 | likely_benign | 0.0702 | benign | -1.368 | Destabilizing | None | N | 0.156 | neutral | N | 0.365744838 | None | None | I |
| T/V | 0.3626 | ambiguous | 0.4235 | ambiguous | -0.699 | Destabilizing | 0.031 | N | 0.471 | neutral | None | None | None | None | I |
| T/W | 0.7324 | likely_pathogenic | 0.8356 | pathogenic | -1.014 | Destabilizing | 0.864 | D | 0.536 | neutral | None | None | None | None | I |
| T/Y | 0.4285 | ambiguous | 0.5441 | ambiguous | -0.734 | Destabilizing | 0.356 | N | 0.555 | 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.