Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35690 | 107293;107294;107295 | chr2:178528683;178528682;178528681 | chr2:179393410;179393409;179393408 |
| N2AB | 34049 | 102370;102371;102372 | chr2:178528683;178528682;178528681 | chr2:179393410;179393409;179393408 |
| N2A | 33122 | 99589;99590;99591 | chr2:178528683;178528682;178528681 | chr2:179393410;179393409;179393408 |
| N2B | 26625 | 80098;80099;80100 | chr2:178528683;178528682;178528681 | chr2:179393410;179393409;179393408 |
| Novex-1 | 26750 | 80473;80474;80475 | chr2:178528683;178528682;178528681 | chr2:179393410;179393409;179393408 |
| Novex-2 | 26817 | 80674;80675;80676 | chr2:178528683;178528682;178528681 | chr2:179393410;179393409;179393408 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs759928440  |
-0.515 | 0.828 | N | 0.653 | 0.345 | 0.26169431596 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| Y/C | rs759928440 |
-0.515 | 0.828 | N | 0.653 | 0.345 | 0.26169431596 | gnomAD-4.0.0 | 1.59206E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43443E-05 | 0 |
| Y/H | rs879023680 |
None | 0.56 | N | 0.595 | 0.387 | None | 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 |
| Y/H | rs879023680 |
None | 0.56 | N | 0.595 | 0.387 | None | gnomAD-4.0.0 | 6.57056E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47007E-05 | 0 | 0 |
| Y/N | None | None | 0.56 | N | 0.689 | 0.402 | 0.468504517574 | gnomAD-4.0.0 | 1.59207E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85894E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.8736 | likely_pathogenic | 0.895 | pathogenic | -2.998 | Highly Destabilizing | 0.031 | N | 0.547 | neutral | None | None | None | None | N |
| Y/C | 0.4058 | ambiguous | 0.48 | ambiguous | -2.055 | Highly Destabilizing | 0.828 | D | 0.653 | neutral | N | 0.459945865 | None | None | N |
| Y/D | 0.8964 | likely_pathogenic | 0.9243 | pathogenic | -2.927 | Highly Destabilizing | 0.56 | D | 0.7 | prob.neutral | N | 0.46046594 | None | None | N |
| Y/E | 0.9582 | likely_pathogenic | 0.9696 | pathogenic | -2.741 | Highly Destabilizing | 0.356 | N | 0.708 | prob.delet. | None | None | None | None | N |
| Y/F | 0.1205 | likely_benign | 0.1142 | benign | -1.125 | Destabilizing | None | N | 0.104 | neutral | N | 0.415885657 | None | None | N |
| Y/G | 0.8394 | likely_pathogenic | 0.8649 | pathogenic | -3.424 | Highly Destabilizing | 0.136 | N | 0.678 | prob.neutral | None | None | None | None | N |
| Y/H | 0.5984 | likely_pathogenic | 0.6384 | pathogenic | -1.937 | Destabilizing | 0.56 | D | 0.595 | neutral | N | 0.460292582 | None | None | N |
| Y/I | 0.7105 | likely_pathogenic | 0.7472 | pathogenic | -1.607 | Destabilizing | 0.001 | N | 0.235 | neutral | None | None | None | None | N |
| Y/K | 0.9424 | likely_pathogenic | 0.951 | pathogenic | -2.049 | Highly Destabilizing | 0.356 | N | 0.711 | prob.delet. | None | None | None | None | N |
| Y/L | 0.696 | likely_pathogenic | 0.7231 | pathogenic | -1.607 | Destabilizing | 0.007 | N | 0.343 | neutral | None | None | None | None | N |
| Y/M | 0.781 | likely_pathogenic | 0.8108 | pathogenic | -1.463 | Destabilizing | 0.356 | N | 0.669 | neutral | None | None | None | None | N |
| Y/N | 0.6701 | likely_pathogenic | 0.722 | pathogenic | -2.735 | Highly Destabilizing | 0.56 | D | 0.689 | prob.neutral | N | 0.460292582 | None | None | N |
| Y/P | 0.9931 | likely_pathogenic | 0.9949 | pathogenic | -2.082 | Highly Destabilizing | 0.628 | D | 0.663 | neutral | None | None | None | None | N |
| Y/Q | 0.9156 | likely_pathogenic | 0.9316 | pathogenic | -2.523 | Highly Destabilizing | 0.628 | D | 0.675 | neutral | None | None | None | None | N |
| Y/R | 0.8924 | likely_pathogenic | 0.9029 | pathogenic | -1.744 | Destabilizing | 0.356 | N | 0.677 | prob.neutral | None | None | None | None | N |
| Y/S | 0.74 | likely_pathogenic | 0.785 | pathogenic | -3.223 | Highly Destabilizing | 0.106 | N | 0.662 | neutral | N | 0.45942579 | None | None | N |
| Y/T | 0.8553 | likely_pathogenic | 0.8874 | pathogenic | -2.912 | Highly Destabilizing | 0.136 | N | 0.647 | neutral | None | None | None | None | N |
| Y/V | 0.6326 | likely_pathogenic | 0.6829 | pathogenic | -2.082 | Highly Destabilizing | 0.016 | N | 0.469 | neutral | None | None | None | None | N |
| Y/W | 0.6268 | likely_pathogenic | 0.6223 | pathogenic | -0.481 | Destabilizing | 0.356 | N | 0.599 | 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.