Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17916 | 53971;53972;53973 | chr2:178605549;178605548;178605547 | chr2:179470276;179470275;179470274 |
| N2AB | 16275 | 49048;49049;49050 | chr2:178605549;178605548;178605547 | chr2:179470276;179470275;179470274 |
| N2A | 15348 | 46267;46268;46269 | chr2:178605549;178605548;178605547 | chr2:179470276;179470275;179470274 |
| N2B | 8851 | 26776;26777;26778 | chr2:178605549;178605548;178605547 | chr2:179470276;179470275;179470274 |
| Novex-1 | 8976 | 27151;27152;27153 | chr2:178605549;178605548;178605547 | chr2:179470276;179470275;179470274 |
| Novex-2 | 9043 | 27352;27353;27354 | chr2:178605549;178605548;178605547 | chr2:179470276;179470275;179470274 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | None | None | 0.997 | N | 0.499 | 0.303 | 0.590672040873 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| L/R | rs1412322444  |
-0.515 | 0.999 | N | 0.621 | 0.459 | 0.719263558215 | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 8.28E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
| L/R | rs1412322444 |
-0.515 | 0.999 | N | 0.621 | 0.459 | 0.719263558215 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 9.66E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| L/R | rs1412322444 |
-0.515 | 0.999 | N | 0.621 | 0.459 | 0.719263558215 | gnomAD-4.0.0 | 1.15497E-05 | None | None | None | None | N | None | 6.77805E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.19898E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.3968 | ambiguous | 0.4515 | ambiguous | -1.46 | Destabilizing | 0.985 | D | 0.495 | neutral | None | None | None | None | N |
| L/C | 0.6396 | likely_pathogenic | 0.6443 | pathogenic | -0.823 | Destabilizing | 1.0 | D | 0.564 | neutral | None | None | None | None | N |
| L/D | 0.8277 | likely_pathogenic | 0.8394 | pathogenic | -0.735 | Destabilizing | 0.998 | D | 0.657 | neutral | None | None | None | None | N |
| L/E | 0.5677 | likely_pathogenic | 0.5807 | pathogenic | -0.762 | Destabilizing | 0.998 | D | 0.639 | neutral | None | None | None | None | N |
| L/F | 0.2609 | likely_benign | 0.2843 | benign | -1.08 | Destabilizing | 0.997 | D | 0.499 | neutral | N | 0.482982261 | None | None | N |
| L/G | 0.7482 | likely_pathogenic | 0.7704 | pathogenic | -1.749 | Destabilizing | 0.998 | D | 0.619 | neutral | None | None | None | None | N |
| L/H | 0.4832 | ambiguous | 0.489 | ambiguous | -0.923 | Destabilizing | 1.0 | D | 0.674 | neutral | N | 0.499301182 | None | None | N |
| L/I | 0.1055 | likely_benign | 0.1182 | benign | -0.759 | Destabilizing | 0.4 | N | 0.147 | neutral | N | 0.450371085 | None | None | N |
| L/K | 0.4739 | ambiguous | 0.4633 | ambiguous | -0.895 | Destabilizing | 0.998 | D | 0.581 | neutral | None | None | None | None | N |
| L/M | 0.1688 | likely_benign | 0.1783 | benign | -0.519 | Destabilizing | 0.998 | D | 0.524 | neutral | None | None | None | None | N |
| L/N | 0.5698 | likely_pathogenic | 0.5204 | ambiguous | -0.655 | Destabilizing | 0.999 | D | 0.67 | neutral | None | None | None | None | N |
| L/P | 0.1928 | likely_benign | 0.2063 | benign | -0.96 | Destabilizing | 0.135 | N | 0.457 | neutral | N | 0.432500187 | None | None | N |
| L/Q | 0.3662 | ambiguous | 0.3652 | ambiguous | -0.868 | Destabilizing | 0.999 | D | 0.633 | neutral | None | None | None | None | N |
| L/R | 0.3786 | ambiguous | 0.3846 | ambiguous | -0.275 | Destabilizing | 0.999 | D | 0.621 | neutral | N | 0.494047291 | None | None | N |
| L/S | 0.5565 | ambiguous | 0.5874 | pathogenic | -1.273 | Destabilizing | 0.998 | D | 0.546 | neutral | None | None | None | None | N |
| L/T | 0.3609 | ambiguous | 0.4177 | ambiguous | -1.186 | Destabilizing | 0.993 | D | 0.497 | neutral | None | None | None | None | N |
| L/V | 0.1306 | likely_benign | 0.1487 | benign | -0.96 | Destabilizing | 0.911 | D | 0.421 | neutral | N | 0.472666367 | None | None | N |
| L/W | 0.461 | ambiguous | 0.4731 | ambiguous | -1.106 | Destabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | N |
| L/Y | 0.4739 | ambiguous | 0.4719 | ambiguous | -0.891 | Destabilizing | 0.999 | D | 0.565 | 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.