Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25089 | 75490;75491;75492 | chr2:178570867;178570866;178570865 | chr2:179435594;179435593;179435592 |
| N2AB | 23448 | 70567;70568;70569 | chr2:178570867;178570866;178570865 | chr2:179435594;179435593;179435592 |
| N2A | 22521 | 67786;67787;67788 | chr2:178570867;178570866;178570865 | chr2:179435594;179435593;179435592 |
| N2B | 16024 | 48295;48296;48297 | chr2:178570867;178570866;178570865 | chr2:179435594;179435593;179435592 |
| Novex-1 | 16149 | 48670;48671;48672 | chr2:178570867;178570866;178570865 | chr2:179435594;179435593;179435592 |
| Novex-2 | 16216 | 48871;48872;48873 | chr2:178570867;178570866;178570865 | chr2:179435594;179435593;179435592 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/M | rs1004625054  |
None | 0.942 | N | 0.554 | 0.257 | 0.280987212366 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs1004625054 |
None | 0.942 | N | 0.554 | 0.257 | 0.280987212366 | gnomAD-4.0.0 | 2.03001E-06 | None | None | None | None | I | None | 1.74746E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.20495E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1559 | likely_benign | 0.1728 | benign | -0.972 | Destabilizing | 0.489 | N | 0.511 | neutral | N | 0.455958624 | None | None | I |
| V/C | 0.5117 | ambiguous | 0.5475 | ambiguous | -0.868 | Destabilizing | 0.998 | D | 0.593 | neutral | None | None | None | None | I |
| V/D | 0.3291 | likely_benign | 0.3627 | ambiguous | -0.082 | Destabilizing | 0.956 | D | 0.728 | prob.delet. | None | None | None | None | I |
| V/E | 0.3408 | ambiguous | 0.383 | ambiguous | -0.147 | Destabilizing | 0.942 | D | 0.665 | neutral | N | 0.474179025 | None | None | I |
| V/F | 0.1393 | likely_benign | 0.1606 | benign | -1.03 | Destabilizing | 0.956 | D | 0.58 | neutral | None | None | None | None | I |
| V/G | 0.1829 | likely_benign | 0.1993 | benign | -1.177 | Destabilizing | 0.89 | D | 0.666 | neutral | N | 0.483523055 | None | None | I |
| V/H | 0.4807 | ambiguous | 0.5256 | ambiguous | -0.662 | Destabilizing | 0.998 | D | 0.762 | deleterious | None | None | None | None | I |
| V/I | 0.0724 | likely_benign | 0.0733 | benign | -0.553 | Destabilizing | 0.019 | N | 0.205 | neutral | None | None | None | None | I |
| V/K | 0.4516 | ambiguous | 0.4925 | ambiguous | -0.467 | Destabilizing | 0.956 | D | 0.671 | neutral | None | None | None | None | I |
| V/L | 0.1504 | likely_benign | 0.1762 | benign | -0.553 | Destabilizing | 0.489 | N | 0.426 | neutral | N | 0.478488767 | None | None | I |
| V/M | 0.1244 | likely_benign | 0.1471 | benign | -0.479 | Destabilizing | 0.942 | D | 0.554 | neutral | N | 0.507542237 | None | None | I |
| V/N | 0.1684 | likely_benign | 0.1825 | benign | -0.214 | Destabilizing | 0.956 | D | 0.736 | prob.delet. | None | None | None | None | I |
| V/P | 0.8218 | likely_pathogenic | 0.8459 | pathogenic | -0.657 | Destabilizing | 0.978 | D | 0.685 | prob.neutral | None | None | None | None | I |
| V/Q | 0.3347 | likely_benign | 0.3789 | ambiguous | -0.438 | Destabilizing | 0.956 | D | 0.692 | prob.neutral | None | None | None | None | I |
| V/R | 0.3685 | ambiguous | 0.401 | ambiguous | -0.019 | Destabilizing | 0.956 | D | 0.737 | prob.delet. | None | None | None | None | I |
| V/S | 0.1475 | likely_benign | 0.1605 | benign | -0.796 | Destabilizing | 0.16 | N | 0.373 | neutral | None | None | None | None | I |
| V/T | 0.1521 | likely_benign | 0.1715 | benign | -0.747 | Destabilizing | 0.754 | D | 0.498 | neutral | None | None | None | None | I |
| V/W | 0.7411 | likely_pathogenic | 0.7936 | pathogenic | -1.059 | Destabilizing | 0.998 | D | 0.775 | deleterious | None | None | None | None | I |
| V/Y | 0.4128 | ambiguous | 0.4588 | ambiguous | -0.75 | Destabilizing | 0.993 | D | 0.584 | neutral | None | None | None | None | I |
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.