Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35660 | 107203;107204;107205 | chr2:178528773;178528772;178528771 | chr2:179393500;179393499;179393498 |
| N2AB | 34019 | 102280;102281;102282 | chr2:178528773;178528772;178528771 | chr2:179393500;179393499;179393498 |
| N2A | 33092 | 99499;99500;99501 | chr2:178528773;178528772;178528771 | chr2:179393500;179393499;179393498 |
| N2B | 26595 | 80008;80009;80010 | chr2:178528773;178528772;178528771 | chr2:179393500;179393499;179393498 |
| Novex-1 | 26720 | 80383;80384;80385 | chr2:178528773;178528772;178528771 | chr2:179393500;179393499;179393498 |
| Novex-2 | 26787 | 80584;80585;80586 | chr2:178528773;178528772;178528771 | chr2:179393500;179393499;179393498 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | None | None | 0.001 | N | 0.439 | 0.04 | 0.0716867268079 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| Q/R | rs1258652838  |
-0.456 | 0.324 | N | 0.678 | 0.17 | 0.0884992946249 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| Q/R | rs1258652838 |
-0.456 | 0.324 | N | 0.678 | 0.17 | 0.0884992946249 | gnomAD-4.0.0 | 1.59397E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77577E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.4268 | ambiguous | 0.4606 | ambiguous | -0.357 | Destabilizing | 0.207 | N | 0.704 | prob.neutral | None | None | None | None | N |
| Q/C | 0.8496 | likely_pathogenic | 0.8446 | pathogenic | -0.425 | Destabilizing | 0.981 | D | 0.751 | deleterious | None | None | None | None | N |
| Q/D | 0.7647 | likely_pathogenic | 0.8215 | pathogenic | -2.027 | Highly Destabilizing | 0.388 | N | 0.699 | prob.neutral | None | None | None | None | N |
| Q/E | 0.1557 | likely_benign | 0.1729 | benign | -1.846 | Destabilizing | 0.09 | N | 0.597 | neutral | N | 0.438449432 | None | None | N |
| Q/F | 0.8671 | likely_pathogenic | 0.8521 | pathogenic | -0.343 | Destabilizing | 0.69 | D | 0.792 | deleterious | None | None | None | None | N |
| Q/G | 0.4959 | ambiguous | 0.5498 | ambiguous | -0.726 | Destabilizing | 0.388 | N | 0.725 | prob.delet. | None | None | None | None | N |
| Q/H | 0.3497 | ambiguous | 0.3346 | benign | -0.873 | Destabilizing | 0.001 | N | 0.439 | neutral | N | 0.393869149 | None | None | N |
| Q/I | 0.6843 | likely_pathogenic | 0.6934 | pathogenic | 0.594 | Stabilizing | 0.818 | D | 0.789 | deleterious | None | None | None | None | N |
| Q/K | 0.1649 | likely_benign | 0.2074 | benign | -0.218 | Destabilizing | 0.165 | N | 0.649 | neutral | N | 0.438449432 | None | None | N |
| Q/L | 0.3588 | ambiguous | 0.3681 | ambiguous | 0.594 | Stabilizing | 0.324 | N | 0.731 | prob.delet. | N | 0.436889207 | None | None | N |
| Q/M | 0.5949 | likely_pathogenic | 0.5765 | pathogenic | 0.846 | Stabilizing | 0.932 | D | 0.747 | deleterious | None | None | None | None | N |
| Q/N | 0.4704 | ambiguous | 0.4831 | ambiguous | -1.117 | Destabilizing | 0.241 | N | 0.697 | prob.neutral | None | None | None | None | N |
| Q/P | 0.6062 | likely_pathogenic | 0.6888 | pathogenic | 0.308 | Stabilizing | 0.773 | D | 0.765 | deleterious | N | 0.438449432 | None | None | N |
| Q/R | 0.2026 | likely_benign | 0.2469 | benign | -0.339 | Destabilizing | 0.324 | N | 0.678 | prob.neutral | N | 0.437582641 | None | None | N |
| Q/S | 0.4785 | ambiguous | 0.5135 | ambiguous | -1.105 | Destabilizing | 0.388 | N | 0.685 | prob.neutral | None | None | None | None | N |
| Q/T | 0.4261 | ambiguous | 0.4686 | ambiguous | -0.745 | Destabilizing | 0.563 | D | 0.735 | prob.delet. | None | None | None | None | N |
| Q/V | 0.5225 | ambiguous | 0.5386 | ambiguous | 0.308 | Stabilizing | 0.563 | D | 0.745 | deleterious | None | None | None | None | N |
| Q/W | 0.8422 | likely_pathogenic | 0.8384 | pathogenic | -0.517 | Destabilizing | 0.981 | D | 0.733 | prob.delet. | None | None | None | None | N |
| Q/Y | 0.6832 | likely_pathogenic | 0.667 | pathogenic | -0.02 | Destabilizing | 0.241 | N | 0.747 | deleterious | 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.