Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19848 | 59767;59768;59769 | chr2:178592463;178592462;178592461 | chr2:179457190;179457189;179457188 |
| N2AB | 18207 | 54844;54845;54846 | chr2:178592463;178592462;178592461 | chr2:179457190;179457189;179457188 |
| N2A | 17280 | 52063;52064;52065 | chr2:178592463;178592462;178592461 | chr2:179457190;179457189;179457188 |
| N2B | 10783 | 32572;32573;32574 | chr2:178592463;178592462;178592461 | chr2:179457190;179457189;179457188 |
| Novex-1 | 10908 | 32947;32948;32949 | chr2:178592463;178592462;178592461 | chr2:179457190;179457189;179457188 |
| Novex-2 | 10975 | 33148;33149;33150 | chr2:178592463;178592462;178592461 | chr2:179457190;179457189;179457188 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | None | None | 0.213 | N | 0.429 | 0.198 | 0.373537453441 | gnomAD-4.0.0 | 6.84324E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99594E-07 | 0 | 0 |
| A/V | rs776318202  |
-0.182 | 0.001 | N | 0.129 | 0.069 | 0.245660935333 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs776318202 |
-0.182 | 0.001 | N | 0.129 | 0.069 | 0.245660935333 | gnomAD-4.0.0 | 6.84324E-07 | None | None | None | None | N | None | 0 | 2.23664E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.2998 | likely_benign | 0.282 | benign | -0.83 | Destabilizing | 0.951 | D | 0.415 | neutral | None | None | None | None | N |
| A/D | 0.1931 | likely_benign | 0.1884 | benign | -1.391 | Destabilizing | 0.213 | N | 0.429 | neutral | N | 0.45392397 | None | None | N |
| A/E | 0.1698 | likely_benign | 0.1621 | benign | -1.522 | Destabilizing | 0.002 | N | 0.245 | neutral | None | None | None | None | N |
| A/F | 0.2454 | likely_benign | 0.2333 | benign | -1.311 | Destabilizing | 0.557 | D | 0.441 | neutral | None | None | None | None | N |
| A/G | 0.1163 | likely_benign | 0.1143 | benign | -0.934 | Destabilizing | 0.183 | N | 0.306 | neutral | N | 0.469605498 | None | None | N |
| A/H | 0.3116 | likely_benign | 0.2952 | benign | -1.01 | Destabilizing | 0.836 | D | 0.46 | neutral | None | None | None | None | N |
| A/I | 0.1466 | likely_benign | 0.1319 | benign | -0.643 | Destabilizing | 0.11 | N | 0.404 | neutral | None | None | None | None | N |
| A/K | 0.2545 | likely_benign | 0.2351 | benign | -1.141 | Destabilizing | 0.264 | N | 0.413 | neutral | None | None | None | None | N |
| A/L | 0.1139 | likely_benign | 0.1065 | benign | -0.643 | Destabilizing | 0.002 | N | 0.195 | neutral | None | None | None | None | N |
| A/M | 0.151 | likely_benign | 0.1375 | benign | -0.356 | Destabilizing | 0.716 | D | 0.439 | neutral | None | None | None | None | N |
| A/N | 0.1472 | likely_benign | 0.1394 | benign | -0.77 | Destabilizing | 0.01 | N | 0.168 | neutral | None | None | None | None | N |
| A/P | 0.4727 | ambiguous | 0.4353 | ambiguous | -0.662 | Destabilizing | 0.794 | D | 0.428 | neutral | N | 0.486973457 | None | None | N |
| A/Q | 0.197 | likely_benign | 0.1879 | benign | -1.115 | Destabilizing | 0.557 | D | 0.443 | neutral | None | None | None | None | N |
| A/R | 0.231 | likely_benign | 0.2323 | benign | -0.567 | Destabilizing | 0.005 | N | 0.269 | neutral | None | None | None | None | N |
| A/S | 0.0739 | likely_benign | 0.0777 | benign | -0.956 | Destabilizing | 0.101 | N | 0.327 | neutral | N | 0.428161521 | None | None | N |
| A/T | 0.0639 | likely_benign | 0.0625 | benign | -1.022 | Destabilizing | 0.007 | N | 0.207 | neutral | N | 0.398628048 | None | None | N |
| A/V | 0.0853 | likely_benign | 0.0827 | benign | -0.662 | Destabilizing | 0.001 | N | 0.129 | neutral | N | 0.433858129 | None | None | N |
| A/W | 0.6199 | likely_pathogenic | 0.6025 | pathogenic | -1.482 | Destabilizing | 0.983 | D | 0.514 | neutral | None | None | None | None | N |
| A/Y | 0.3794 | ambiguous | 0.3629 | ambiguous | -1.155 | Destabilizing | 0.836 | D | 0.451 | 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.