Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34272 | 103039;103040;103041 | chr2:178533801;178533800;178533799 | chr2:179398528;179398527;179398526 |
| N2AB | 32631 | 98116;98117;98118 | chr2:178533801;178533800;178533799 | chr2:179398528;179398527;179398526 |
| N2A | 31704 | 95335;95336;95337 | chr2:178533801;178533800;178533799 | chr2:179398528;179398527;179398526 |
| N2B | 25207 | 75844;75845;75846 | chr2:178533801;178533800;178533799 | chr2:179398528;179398527;179398526 |
| Novex-1 | 25332 | 76219;76220;76221 | chr2:178533801;178533800;178533799 | chr2:179398528;179398527;179398526 |
| Novex-2 | 25399 | 76420;76421;76422 | chr2:178533801;178533800;178533799 | chr2:179398528;179398527;179398526 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs794729562  |
-0.272 | 1.0 | D | 0.84 | 0.866 | 0.866886302678 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| G/R | rs794729562 |
-0.272 | 1.0 | D | 0.84 | 0.866 | 0.866886302678 | gnomAD-4.0.0 | 1.36831E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.70889E-05 | 0 | 1.65645E-05 |
| G/S | rs794729562 |
None | 0.999 | D | 0.827 | 0.863 | 0.654939258183 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs794729562 |
None | 0.999 | D | 0.827 | 0.863 | 0.654939258183 | gnomAD-4.0.0 | 6.57073E-06 | None | None | None | None | N | None | 2.41301E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5208 | ambiguous | 0.5985 | pathogenic | -0.412 | Destabilizing | 0.991 | D | 0.687 | prob.neutral | D | 0.620575662 | None | None | N |
| G/C | 0.6548 | likely_pathogenic | 0.7693 | pathogenic | -0.936 | Destabilizing | 0.777 | D | 0.708 | prob.delet. | D | 0.646719186 | None | None | N |
| G/D | 0.3123 | likely_benign | 0.3504 | ambiguous | -0.655 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.586922506 | None | None | N |
| G/E | 0.495 | ambiguous | 0.5781 | pathogenic | -0.817 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/F | 0.9351 | likely_pathogenic | 0.9599 | pathogenic | -1.12 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/H | 0.7244 | likely_pathogenic | 0.7855 | pathogenic | -0.64 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| G/I | 0.9505 | likely_pathogenic | 0.974 | pathogenic | -0.523 | Destabilizing | 0.999 | D | 0.828 | deleterious | None | None | None | None | N |
| G/K | 0.7483 | likely_pathogenic | 0.801 | pathogenic | -0.853 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/L | 0.8887 | likely_pathogenic | 0.9213 | pathogenic | -0.523 | Destabilizing | 0.998 | D | 0.817 | deleterious | None | None | None | None | N |
| G/M | 0.9173 | likely_pathogenic | 0.9465 | pathogenic | -0.449 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/N | 0.4409 | ambiguous | 0.4714 | ambiguous | -0.544 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| G/P | 0.9904 | likely_pathogenic | 0.9944 | pathogenic | -0.453 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/Q | 0.6551 | likely_pathogenic | 0.7121 | pathogenic | -0.854 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/R | 0.6297 | likely_pathogenic | 0.7188 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.84 | deleterious | D | 0.614276856 | None | None | N |
| G/S | 0.2455 | likely_benign | 0.2973 | benign | -0.708 | Destabilizing | 0.999 | D | 0.827 | deleterious | D | 0.595067911 | None | None | N |
| G/T | 0.6409 | likely_pathogenic | 0.7236 | pathogenic | -0.801 | Destabilizing | 0.999 | D | 0.831 | deleterious | None | None | None | None | N |
| G/V | 0.8981 | likely_pathogenic | 0.9441 | pathogenic | -0.453 | Destabilizing | 0.999 | D | 0.817 | deleterious | D | 0.630498021 | None | None | N |
| G/W | 0.8169 | likely_pathogenic | 0.8913 | pathogenic | -1.255 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| G/Y | 0.8411 | likely_pathogenic | 0.8938 | pathogenic | -0.91 | Destabilizing | 1.0 | D | 0.857 | 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.