Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14289 | 43090;43091;43092 | chr2:178633494;178633493;178633492 | chr2:179498221;179498220;179498219 |
| N2AB | 12648 | 38167;38168;38169 | chr2:178633494;178633493;178633492 | chr2:179498221;179498220;179498219 |
| N2A | 11721 | 35386;35387;35388 | chr2:178633494;178633493;178633492 | chr2:179498221;179498220;179498219 |
| N2B | 5224 | 15895;15896;15897 | chr2:178633494;178633493;178633492 | chr2:179498221;179498220;179498219 |
| Novex-1 | 5349 | 16270;16271;16272 | chr2:178633494;178633493;178633492 | chr2:179498221;179498220;179498219 |
| Novex-2 | 5416 | 16471;16472;16473 | chr2:178633494;178633493;178633492 | chr2:179498221;179498220;179498219 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs1387348110  |
0.32 | 0.989 | N | 0.558 | 0.369 | 0.44898880988 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| K/E | rs1387348110 |
0.32 | 0.989 | N | 0.558 | 0.369 | 0.44898880988 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| K/E | rs1387348110 |
0.32 | 0.989 | N | 0.558 | 0.369 | 0.44898880988 | gnomAD-4.0.0 | 5.12718E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.57584E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.4661 | ambiguous | 0.4514 | ambiguous | -0.563 | Destabilizing | 0.983 | D | 0.545 | neutral | None | None | None | None | N |
| K/C | 0.8054 | likely_pathogenic | 0.777 | pathogenic | -0.732 | Destabilizing | 1.0 | D | 0.638 | neutral | None | None | None | None | N |
| K/D | 0.7105 | likely_pathogenic | 0.685 | pathogenic | -0.198 | Destabilizing | 0.998 | D | 0.525 | neutral | None | None | None | None | N |
| K/E | 0.2847 | likely_benign | 0.2463 | benign | -0.098 | Destabilizing | 0.989 | D | 0.558 | neutral | N | 0.505695662 | None | None | N |
| K/F | 0.8148 | likely_pathogenic | 0.7602 | pathogenic | -0.35 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | N |
| K/G | 0.5058 | ambiguous | 0.4725 | ambiguous | -0.916 | Destabilizing | 0.992 | D | 0.543 | neutral | None | None | None | None | N |
| K/H | 0.3557 | ambiguous | 0.3488 | ambiguous | -1.286 | Destabilizing | 1.0 | D | 0.555 | neutral | None | None | None | None | N |
| K/I | 0.5063 | ambiguous | 0.4399 | ambiguous | 0.341 | Stabilizing | 0.998 | D | 0.661 | neutral | D | 0.573737527 | None | None | N |
| K/L | 0.4465 | ambiguous | 0.4222 | ambiguous | 0.341 | Stabilizing | 0.996 | D | 0.52 | neutral | None | None | None | None | N |
| K/M | 0.3652 | ambiguous | 0.3219 | benign | 0.257 | Stabilizing | 1.0 | D | 0.551 | neutral | None | None | None | None | N |
| K/N | 0.5449 | ambiguous | 0.485 | ambiguous | -0.489 | Destabilizing | 0.997 | D | 0.511 | neutral | N | 0.511684454 | None | None | N |
| K/P | 0.6935 | likely_pathogenic | 0.7429 | pathogenic | 0.07 | Stabilizing | 0.999 | D | 0.585 | neutral | None | None | None | None | N |
| K/Q | 0.1645 | likely_benign | 0.1507 | benign | -0.622 | Destabilizing | 0.997 | D | 0.531 | neutral | N | 0.505600606 | None | None | N |
| K/R | 0.0998 | likely_benign | 0.0907 | benign | -0.604 | Destabilizing | 0.391 | N | 0.291 | neutral | N | 0.498088494 | None | None | N |
| K/S | 0.4872 | ambiguous | 0.4649 | ambiguous | -1.172 | Destabilizing | 0.914 | D | 0.307 | neutral | None | None | None | None | N |
| K/T | 0.2547 | likely_benign | 0.2485 | benign | -0.868 | Destabilizing | 0.978 | D | 0.549 | neutral | N | 0.511164862 | None | None | N |
| K/V | 0.4819 | ambiguous | 0.4403 | ambiguous | 0.07 | Stabilizing | 0.999 | D | 0.555 | neutral | None | None | None | None | N |
| K/W | 0.7757 | likely_pathogenic | 0.7445 | pathogenic | -0.205 | Destabilizing | 1.0 | D | 0.644 | neutral | None | None | None | None | N |
| K/Y | 0.7314 | likely_pathogenic | 0.6577 | pathogenic | 0.113 | Stabilizing | 1.0 | D | 0.612 | 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.