Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16166 | 48721;48722;48723 | chr2:178615449;178615448;178615447 | chr2:179480176;179480175;179480174 |
| N2AB | 14525 | 43798;43799;43800 | chr2:178615449;178615448;178615447 | chr2:179480176;179480175;179480174 |
| N2A | 13598 | 41017;41018;41019 | chr2:178615449;178615448;178615447 | chr2:179480176;179480175;179480174 |
| N2B | 7101 | 21526;21527;21528 | chr2:178615449;178615448;178615447 | chr2:179480176;179480175;179480174 |
| Novex-1 | 7226 | 21901;21902;21903 | chr2:178615449;178615448;178615447 | chr2:179480176;179480175;179480174 |
| Novex-2 | 7293 | 22102;22103;22104 | chr2:178615449;178615448;178615447 | chr2:179480176;179480175;179480174 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs1429263816  |
None | 0.977 | N | 0.38 | 0.279 | 0.304435445954 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.95E-05 | 0 | 0 |
| D/E | rs1429263816 |
None | 0.977 | N | 0.38 | 0.279 | 0.304435445954 | gnomAD-4.0.0 | 6.2024E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.48231E-06 | 0 | 0 |
| D/G | rs2154206145 |
None | 0.955 | D | 0.565 | 0.41 | 0.338592109245 | 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 |
| D/N | None | None | 0.235 | N | 0.295 | 0.127 | 0.276898752692 | gnomAD-4.0.0 | 1.59421E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86436E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.4422 | ambiguous | 0.5543 | ambiguous | -0.313 | Destabilizing | 0.993 | D | 0.597 | neutral | N | 0.508663547 | None | None | N |
| D/C | 0.8486 | likely_pathogenic | 0.8987 | pathogenic | -0.181 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| D/E | 0.2967 | likely_benign | 0.3874 | ambiguous | -0.42 | Destabilizing | 0.977 | D | 0.38 | neutral | N | 0.470341387 | None | None | N |
| D/F | 0.8441 | likely_pathogenic | 0.8876 | pathogenic | 0.303 | Stabilizing | 1.0 | D | 0.652 | neutral | None | None | None | None | N |
| D/G | 0.3629 | ambiguous | 0.462 | ambiguous | -0.651 | Destabilizing | 0.955 | D | 0.565 | neutral | D | 0.56466858 | None | None | N |
| D/H | 0.5501 | ambiguous | 0.658 | pathogenic | 0.259 | Stabilizing | 0.999 | D | 0.616 | neutral | D | 0.670897646 | None | None | N |
| D/I | 0.7701 | likely_pathogenic | 0.8442 | pathogenic | 0.573 | Stabilizing | 0.998 | D | 0.703 | prob.neutral | None | None | None | None | N |
| D/K | 0.6646 | likely_pathogenic | 0.7397 | pathogenic | -0.002 | Destabilizing | 0.995 | D | 0.62 | neutral | None | None | None | None | N |
| D/L | 0.6944 | likely_pathogenic | 0.7731 | pathogenic | 0.573 | Stabilizing | 0.998 | D | 0.687 | prob.neutral | None | None | None | None | N |
| D/M | 0.868 | likely_pathogenic | 0.9172 | pathogenic | 0.732 | Stabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | N |
| D/N | 0.1459 | likely_benign | 0.2127 | benign | -0.612 | Destabilizing | 0.235 | N | 0.295 | neutral | N | 0.47896795 | None | None | N |
| D/P | 0.9514 | likely_pathogenic | 0.9613 | pathogenic | 0.304 | Stabilizing | 0.999 | D | 0.677 | prob.neutral | None | None | None | None | N |
| D/Q | 0.5564 | ambiguous | 0.6654 | pathogenic | -0.457 | Destabilizing | 0.998 | D | 0.653 | neutral | None | None | None | None | N |
| D/R | 0.7091 | likely_pathogenic | 0.7716 | pathogenic | 0.288 | Stabilizing | 0.995 | D | 0.661 | neutral | None | None | None | None | N |
| D/S | 0.2635 | likely_benign | 0.3714 | ambiguous | -0.791 | Destabilizing | 0.966 | D | 0.538 | neutral | None | None | None | None | N |
| D/T | 0.5419 | ambiguous | 0.675 | pathogenic | -0.503 | Destabilizing | 0.995 | D | 0.625 | neutral | None | None | None | None | N |
| D/V | 0.5687 | likely_pathogenic | 0.6656 | pathogenic | 0.304 | Stabilizing | 0.997 | D | 0.687 | prob.neutral | D | 0.640372482 | None | None | N |
| D/W | 0.9543 | likely_pathogenic | 0.9642 | pathogenic | 0.548 | Stabilizing | 1.0 | D | 0.668 | neutral | None | None | None | None | N |
| D/Y | 0.4835 | ambiguous | 0.5488 | ambiguous | 0.577 | Stabilizing | 1.0 | D | 0.647 | neutral | D | 0.632412624 | 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.