Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2313 | 7162;7163;7164 | chr2:178774327;178774326;178774325 | chr2:179639054;179639053;179639052 |
| N2AB | 2313 | 7162;7163;7164 | chr2:178774327;178774326;178774325 | chr2:179639054;179639053;179639052 |
| N2A | 2313 | 7162;7163;7164 | chr2:178774327;178774326;178774325 | chr2:179639054;179639053;179639052 |
| N2B | 2267 | 7024;7025;7026 | chr2:178774327;178774326;178774325 | chr2:179639054;179639053;179639052 |
| Novex-1 | 2267 | 7024;7025;7026 | chr2:178774327;178774326;178774325 | chr2:179639054;179639053;179639052 |
| Novex-2 | 2267 | 7024;7025;7026 | chr2:178774327;178774326;178774325 | chr2:179639054;179639053;179639052 |
| Novex-3 | 2313 | 7162;7163;7164 | chr2:178774327;178774326;178774325 | chr2:179639054;179639053;179639052 |
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 | rs1399835400  |
None | 0.005 | N | 0.214 | 0.056 | 0.0762999501168 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
| T/I | None | None | None | N | 0.111 | 0.161 | 0.370240404367 | gnomAD-4.0.0 | 1.36817E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99318E-07 | 1.15934E-05 | 0 |
| T/R | rs794729579 |
-0.268 | 0.055 | N | 0.429 | 0.143 | 0.506972231042 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.82E-06 | 0 |
| T/R | rs794729579 |
-0.268 | 0.055 | N | 0.429 | 0.143 | 0.506972231042 | gnomAD-4.0.0 | 2.73633E-06 | None | None | None | None | N | None | 0 | 6.70901E-05 | None | 0 | 0 | None | 0 | 0 | 8.99318E-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 | 0.0703 | likely_benign | 0.072 | benign | -1.025 | Destabilizing | 0.005 | N | 0.214 | neutral | N | 0.50913584 | None | None | N |
| T/C | 0.2542 | likely_benign | 0.2789 | benign | -0.761 | Destabilizing | 0.356 | N | 0.411 | neutral | None | None | None | None | N |
| T/D | 0.2698 | likely_benign | 0.2792 | benign | -0.599 | Destabilizing | 0.038 | N | 0.394 | neutral | None | None | None | None | N |
| T/E | 0.2449 | likely_benign | 0.2561 | benign | -0.595 | Destabilizing | 0.016 | N | 0.361 | neutral | None | None | None | None | N |
| T/F | 0.1493 | likely_benign | 0.1522 | benign | -1.317 | Destabilizing | 0.214 | N | 0.495 | neutral | None | None | None | None | N |
| T/G | 0.1844 | likely_benign | 0.1933 | benign | -1.248 | Destabilizing | 0.016 | N | 0.364 | neutral | None | None | None | None | N |
| T/H | 0.1875 | likely_benign | 0.1956 | benign | -1.625 | Destabilizing | 0.356 | N | 0.445 | neutral | None | None | None | None | N |
| T/I | 0.0896 | likely_benign | 0.0906 | benign | -0.518 | Destabilizing | None | N | 0.111 | neutral | N | 0.51019007 | None | None | N |
| T/K | 0.2193 | likely_benign | 0.229 | benign | -0.68 | Destabilizing | 0.012 | N | 0.392 | neutral | N | 0.433747675 | None | None | N |
| T/L | 0.077 | likely_benign | 0.0785 | benign | -0.518 | Destabilizing | 0.007 | N | 0.249 | neutral | None | None | None | None | N |
| T/M | 0.0757 | likely_benign | 0.0794 | benign | -0.092 | Destabilizing | 0.214 | N | 0.414 | neutral | None | None | None | None | N |
| T/N | 0.0852 | likely_benign | 0.0889 | benign | -0.706 | Destabilizing | 0.038 | N | 0.261 | neutral | None | None | None | None | N |
| T/P | 0.5475 | ambiguous | 0.5739 | pathogenic | -0.658 | Destabilizing | 0.055 | N | 0.429 | neutral | D | 0.536340019 | None | None | N |
| T/Q | 0.1917 | likely_benign | 0.2013 | benign | -0.968 | Destabilizing | 0.003 | N | 0.27 | neutral | None | None | None | None | N |
| T/R | 0.179 | likely_benign | 0.1882 | benign | -0.459 | Destabilizing | 0.055 | N | 0.429 | neutral | N | 0.482707282 | None | None | N |
| T/S | 0.0775 | likely_benign | 0.0795 | benign | -0.99 | Destabilizing | None | N | 0.086 | neutral | N | 0.474849321 | None | None | N |
| T/V | 0.0812 | likely_benign | 0.082 | benign | -0.658 | Destabilizing | None | N | 0.079 | neutral | None | None | None | None | N |
| T/W | 0.4495 | ambiguous | 0.4717 | ambiguous | -1.215 | Destabilizing | 0.864 | D | 0.443 | neutral | None | None | None | None | N |
| T/Y | 0.1862 | likely_benign | 0.1929 | benign | -0.945 | Destabilizing | 0.356 | N | 0.489 | 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.