Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18638 | 56137;56138;56139 | chr2:178600992;178600991;178600990 | chr2:179465719;179465718;179465717 |
| N2AB | 16997 | 51214;51215;51216 | chr2:178600992;178600991;178600990 | chr2:179465719;179465718;179465717 |
| N2A | 16070 | 48433;48434;48435 | chr2:178600992;178600991;178600990 | chr2:179465719;179465718;179465717 |
| N2B | 9573 | 28942;28943;28944 | chr2:178600992;178600991;178600990 | chr2:179465719;179465718;179465717 |
| Novex-1 | 9698 | 29317;29318;29319 | chr2:178600992;178600991;178600990 | chr2:179465719;179465718;179465717 |
| Novex-2 | 9765 | 29518;29519;29520 | chr2:178600992;178600991;178600990 | chr2:179465719;179465718;179465717 |
| 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/A | rs746044045  |
-0.494 | 1.0 | N | 0.789 | 0.454 | 0.393623145366 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| D/A | rs746044045 |
-0.494 | 1.0 | N | 0.789 | 0.454 | 0.393623145366 | gnomAD-4.0.0 | 6.8448E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65728E-05 |
| D/G | None | None | 1.0 | N | 0.747 | 0.474 | 0.319970858106 | gnomAD-4.0.0 | 6.8448E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99766E-07 | 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 | 0.2976 | likely_benign | 0.4062 | ambiguous | -0.45 | Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.486078382 | None | None | N |
| D/C | 0.8485 | likely_pathogenic | 0.9061 | pathogenic | -0.185 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| D/E | 0.3967 | ambiguous | 0.4603 | ambiguous | -0.681 | Destabilizing | 1.0 | D | 0.451 | neutral | N | 0.485174305 | None | None | N |
| D/F | 0.7342 | likely_pathogenic | 0.8045 | pathogenic | -0.346 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| D/G | 0.3981 | ambiguous | 0.5173 | ambiguous | -0.724 | Destabilizing | 1.0 | D | 0.747 | deleterious | N | 0.483787438 | None | None | N |
| D/H | 0.4998 | ambiguous | 0.6581 | pathogenic | -0.614 | Destabilizing | 1.0 | D | 0.785 | deleterious | N | 0.486907888 | None | None | N |
| D/I | 0.5657 | likely_pathogenic | 0.6475 | pathogenic | 0.248 | Stabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| D/K | 0.6664 | likely_pathogenic | 0.7913 | pathogenic | -0.42 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| D/L | 0.5587 | ambiguous | 0.642 | pathogenic | 0.248 | Stabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| D/M | 0.7958 | likely_pathogenic | 0.8442 | pathogenic | 0.553 | Stabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| D/N | 0.1615 | likely_benign | 0.2213 | benign | -0.607 | Destabilizing | 1.0 | D | 0.64 | neutral | N | 0.467665979 | None | None | N |
| D/P | 0.5635 | ambiguous | 0.6785 | pathogenic | 0.039 | Stabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| D/Q | 0.638 | likely_pathogenic | 0.7383 | pathogenic | -0.534 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| D/R | 0.6962 | likely_pathogenic | 0.811 | pathogenic | -0.259 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| D/S | 0.29 | likely_benign | 0.3851 | ambiguous | -0.788 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| D/T | 0.4777 | ambiguous | 0.5926 | pathogenic | -0.587 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| D/V | 0.3857 | ambiguous | 0.4704 | ambiguous | 0.039 | Stabilizing | 1.0 | D | 0.874 | deleterious | N | 0.492025706 | None | None | N |
| D/W | 0.9178 | likely_pathogenic | 0.9483 | pathogenic | -0.256 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| D/Y | 0.3091 | likely_benign | 0.4195 | ambiguous | -0.155 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.523001974 | 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.