Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23692 | 71299;71300;71301 | chr2:178575058;178575057;178575056 | chr2:179439785;179439784;179439783 |
| N2AB | 22051 | 66376;66377;66378 | chr2:178575058;178575057;178575056 | chr2:179439785;179439784;179439783 |
| N2A | 21124 | 63595;63596;63597 | chr2:178575058;178575057;178575056 | chr2:179439785;179439784;179439783 |
| N2B | 14627 | 44104;44105;44106 | chr2:178575058;178575057;178575056 | chr2:179439785;179439784;179439783 |
| Novex-1 | 14752 | 44479;44480;44481 | chr2:178575058;178575057;178575056 | chr2:179439785;179439784;179439783 |
| Novex-2 | 14819 | 44680;44681;44682 | chr2:178575058;178575057;178575056 | chr2:179439785;179439784;179439783 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/H | rs780578913  |
-1.397 | 0.994 | N | 0.683 | 0.339 | 0.417081434665 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| N/H | rs780578913 |
-1.397 | 0.994 | N | 0.683 | 0.339 | 0.417081434665 | gnomAD-4.0.0 | 3.4218E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49792E-06 | 0 | 0 |
| N/S | rs1575796679 |
None | 0.805 | N | 0.571 | 0.094 | 0.207176502487 | gnomAD-4.0.0 | 1.59208E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85943E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.2229 | likely_benign | 0.2879 | benign | -0.773 | Destabilizing | 0.845 | D | 0.612 | neutral | None | None | None | None | N |
| N/C | 0.1743 | likely_benign | 0.1999 | benign | -0.378 | Destabilizing | 0.999 | D | 0.743 | deleterious | None | None | None | None | N |
| N/D | 0.2671 | likely_benign | 0.3207 | benign | -1.797 | Destabilizing | 0.892 | D | 0.562 | neutral | N | 0.508334458 | None | None | N |
| N/E | 0.4596 | ambiguous | 0.5366 | ambiguous | -1.607 | Destabilizing | 0.916 | D | 0.594 | neutral | None | None | None | None | N |
| N/F | 0.3681 | ambiguous | 0.4175 | ambiguous | -0.383 | Destabilizing | 0.987 | D | 0.761 | deleterious | None | None | None | None | N |
| N/G | 0.352 | ambiguous | 0.4376 | ambiguous | -1.155 | Destabilizing | 0.916 | D | 0.551 | neutral | None | None | None | None | N |
| N/H | 0.074 | likely_benign | 0.0745 | benign | -0.903 | Destabilizing | 0.994 | D | 0.683 | prob.neutral | N | 0.478704984 | None | None | N |
| N/I | 0.1447 | likely_benign | 0.1667 | benign | 0.225 | Stabilizing | 0.967 | D | 0.745 | deleterious | N | 0.421291477 | None | None | N |
| N/K | 0.3372 | likely_benign | 0.4061 | ambiguous | -0.414 | Destabilizing | 0.892 | D | 0.595 | neutral | N | 0.433663341 | None | None | N |
| N/L | 0.1624 | likely_benign | 0.2005 | benign | 0.225 | Stabilizing | 0.95 | D | 0.72 | prob.delet. | None | None | None | None | N |
| N/M | 0.2197 | likely_benign | 0.258 | benign | 0.473 | Stabilizing | 0.999 | D | 0.713 | prob.delet. | None | None | None | None | N |
| N/P | 0.9418 | likely_pathogenic | 0.9547 | pathogenic | -0.078 | Destabilizing | 0.987 | D | 0.705 | prob.neutral | None | None | None | None | N |
| N/Q | 0.3101 | likely_benign | 0.3642 | ambiguous | -1.105 | Destabilizing | 0.987 | D | 0.675 | neutral | None | None | None | None | N |
| N/R | 0.3351 | likely_benign | 0.3953 | ambiguous | -0.596 | Destabilizing | 0.975 | D | 0.656 | neutral | None | None | None | None | N |
| N/S | 0.0877 | likely_benign | 0.1003 | benign | -1.239 | Destabilizing | 0.805 | D | 0.571 | neutral | N | 0.456193484 | None | None | N |
| N/T | 0.0853 | likely_benign | 0.1061 | benign | -0.871 | Destabilizing | 0.025 | N | 0.329 | neutral | N | 0.429638814 | None | None | N |
| N/V | 0.1552 | likely_benign | 0.1854 | benign | -0.078 | Destabilizing | 0.95 | D | 0.719 | prob.delet. | None | None | None | None | N |
| N/W | 0.6415 | likely_pathogenic | 0.6657 | pathogenic | -0.336 | Destabilizing | 0.999 | D | 0.711 | prob.delet. | None | None | None | None | N |
| N/Y | 0.1251 | likely_benign | 0.1389 | benign | 0.021 | Stabilizing | 0.994 | D | 0.73 | prob.delet. | N | 0.478878343 | 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.