Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2765 | 8518;8519;8520 | chr2:178770499;178770498;178770497 | chr2:179635226;179635225;179635224 |
| N2AB | 2765 | 8518;8519;8520 | chr2:178770499;178770498;178770497 | chr2:179635226;179635225;179635224 |
| N2A | 2765 | 8518;8519;8520 | chr2:178770499;178770498;178770497 | chr2:179635226;179635225;179635224 |
| N2B | 2719 | 8380;8381;8382 | chr2:178770499;178770498;178770497 | chr2:179635226;179635225;179635224 |
| Novex-1 | 2719 | 8380;8381;8382 | chr2:178770499;178770498;178770497 | chr2:179635226;179635225;179635224 |
| Novex-2 | 2719 | 8380;8381;8382 | chr2:178770499;178770498;178770497 | chr2:179635226;179635225;179635224 |
| Novex-3 | 2765 | 8518;8519;8520 | chr2:178770499;178770498;178770497 | chr2:179635226;179635225;179635224 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/K | None | None | None | N | 0.238 | 0.054 | 0.168933306366 | gnomAD-4.0.0 | 1.59051E-06 | None | None | None | None | N | None | 0 | 2.28645E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/M | None | None | 0.484 | N | 0.559 | 0.301 | 0.388653054685 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92382E-04 | None | 0 | 0 | 0 | 0 | 0 |
| R/M | None | None | 0.484 | N | 0.559 | 0.301 | 0.388653054685 | gnomAD-4.0.0 | 6.57073E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.92382E-04 | None | 0 | 0 | 0 | 0 | 0 |
| R/T | None | None | None | N | 0.361 | 0.256 | 0.351614576976 | gnomAD-4.0.0 | 1.59051E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85651E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.2033 | likely_benign | 0.2282 | benign | -1.336 | Destabilizing | 0.035 | N | 0.523 | neutral | None | None | None | None | N |
| R/C | 0.1379 | likely_benign | 0.1491 | benign | -1.353 | Destabilizing | 0.935 | D | 0.535 | neutral | None | None | None | None | N |
| R/D | 0.4907 | ambiguous | 0.5566 | ambiguous | -0.336 | Destabilizing | 0.149 | N | 0.532 | neutral | None | None | None | None | N |
| R/E | 0.1934 | likely_benign | 0.1921 | benign | -0.226 | Destabilizing | 0.035 | N | 0.581 | neutral | None | None | None | None | N |
| R/F | 0.3832 | ambiguous | 0.4049 | ambiguous | -1.284 | Destabilizing | 0.555 | D | 0.552 | neutral | None | None | None | None | N |
| R/G | 0.1858 | likely_benign | 0.2184 | benign | -1.619 | Destabilizing | 0.117 | N | 0.548 | neutral | N | 0.51076574 | None | None | N |
| R/H | 0.0858 | likely_benign | 0.0889 | benign | -1.665 | Destabilizing | 0.555 | D | 0.55 | neutral | None | None | None | None | N |
| R/I | 0.1234 | likely_benign | 0.1287 | benign | -0.57 | Destabilizing | 0.235 | N | 0.557 | neutral | None | None | None | None | N |
| R/K | 0.0724 | likely_benign | 0.0711 | benign | -1.327 | Destabilizing | None | N | 0.238 | neutral | N | 0.408072746 | None | None | N |
| R/L | 0.1493 | likely_benign | 0.1608 | benign | -0.57 | Destabilizing | 0.081 | N | 0.551 | neutral | None | None | None | None | N |
| R/M | 0.137 | likely_benign | 0.1389 | benign | -0.736 | Destabilizing | 0.484 | N | 0.559 | neutral | N | 0.509673318 | None | None | N |
| R/N | 0.2959 | likely_benign | 0.3303 | benign | -0.689 | Destabilizing | 0.149 | N | 0.515 | neutral | None | None | None | None | N |
| R/P | 0.8773 | likely_pathogenic | 0.9321 | pathogenic | -0.808 | Destabilizing | 0.555 | D | 0.555 | neutral | None | None | None | None | N |
| R/Q | 0.0755 | likely_benign | 0.072 | benign | -0.977 | Destabilizing | 0.081 | N | 0.527 | neutral | None | None | None | None | N |
| R/S | 0.2355 | likely_benign | 0.2563 | benign | -1.629 | Destabilizing | 0.027 | N | 0.553 | neutral | N | 0.514543533 | None | None | N |
| R/T | 0.0914 | likely_benign | 0.0952 | benign | -1.346 | Destabilizing | None | N | 0.361 | neutral | N | 0.456279196 | None | None | N |
| R/V | 0.1657 | likely_benign | 0.1734 | benign | -0.808 | Destabilizing | 0.081 | N | 0.537 | neutral | None | None | None | None | N |
| R/W | 0.1703 | likely_benign | 0.1698 | benign | -0.83 | Destabilizing | 0.915 | D | 0.545 | neutral | N | 0.511593214 | None | None | N |
| R/Y | 0.2902 | likely_benign | 0.3012 | benign | -0.559 | Destabilizing | 0.791 | 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.