Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16565 | 49918;49919;49920 | chr2:178613028;178613027;178613026 | chr2:179477755;179477754;179477753 |
| N2AB | 14924 | 44995;44996;44997 | chr2:178613028;178613027;178613026 | chr2:179477755;179477754;179477753 |
| N2A | 13997 | 42214;42215;42216 | chr2:178613028;178613027;178613026 | chr2:179477755;179477754;179477753 |
| N2B | 7500 | 22723;22724;22725 | chr2:178613028;178613027;178613026 | chr2:179477755;179477754;179477753 |
| Novex-1 | 7625 | 23098;23099;23100 | chr2:178613028;178613027;178613026 | chr2:179477755;179477754;179477753 |
| Novex-2 | 7692 | 23299;23300;23301 | chr2:178613028;178613027;178613026 | chr2:179477755;179477754;179477753 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs774229828  |
-0.049 | 0.41 | N | 0.472 | 0.256 | 0.225215365344 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| K/E | rs774229828 |
-0.049 | 0.41 | N | 0.472 | 0.256 | 0.225215365344 | gnomAD-4.0.0 | 6.846E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99826E-07 | 0 | 0 |
| K/Q | None | None | 0.83 | N | 0.7 | 0.29 | 0.247322355667 | gnomAD-4.0.0 | 6.846E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15977E-05 | 0 |
| K/R | rs770853524 |
0.054 | 0.01 | N | 0.304 | 0.097 | 0.197625483188 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| K/R | rs770853524 |
0.054 | 0.01 | N | 0.304 | 0.097 | 0.197625483188 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/R | rs770853524 |
0.054 | 0.01 | N | 0.304 | 0.097 | 0.197625483188 | gnomAD-4.0.0 | 4.34016E-06 | None | None | None | None | N | None | 8.00299E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47994E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.5868 | likely_pathogenic | 0.555 | ambiguous | -0.132 | Destabilizing | 0.648 | D | 0.535 | neutral | None | None | None | None | N |
| K/C | 0.8242 | likely_pathogenic | 0.7528 | pathogenic | -0.238 | Destabilizing | 0.993 | D | 0.796 | deleterious | None | None | None | None | N |
| K/D | 0.8163 | likely_pathogenic | 0.7763 | pathogenic | 0.057 | Stabilizing | 0.866 | D | 0.727 | prob.delet. | None | None | None | None | N |
| K/E | 0.4107 | ambiguous | 0.3998 | ambiguous | 0.065 | Stabilizing | 0.41 | N | 0.472 | neutral | N | 0.475857072 | None | None | N |
| K/F | 0.9196 | likely_pathogenic | 0.8838 | pathogenic | -0.348 | Destabilizing | 0.98 | D | 0.791 | deleterious | None | None | None | None | N |
| K/G | 0.6239 | likely_pathogenic | 0.5526 | ambiguous | -0.354 | Destabilizing | 0.866 | D | 0.679 | prob.neutral | None | None | None | None | N |
| K/H | 0.5467 | ambiguous | 0.4379 | ambiguous | -0.747 | Destabilizing | 0.98 | D | 0.711 | prob.delet. | None | None | None | None | N |
| K/I | 0.6496 | likely_pathogenic | 0.587 | pathogenic | 0.376 | Stabilizing | 0.908 | D | 0.805 | deleterious | D | 0.620498007 | None | None | N |
| K/L | 0.6037 | likely_pathogenic | 0.5251 | ambiguous | 0.376 | Stabilizing | 0.866 | D | 0.679 | prob.neutral | None | None | None | None | N |
| K/M | 0.4525 | ambiguous | 0.4289 | ambiguous | 0.36 | Stabilizing | 0.993 | D | 0.713 | prob.delet. | None | None | None | None | N |
| K/N | 0.6535 | likely_pathogenic | 0.6021 | pathogenic | 0.19 | Stabilizing | 0.83 | D | 0.705 | prob.neutral | N | 0.473466138 | None | None | N |
| K/P | 0.7212 | likely_pathogenic | 0.6796 | pathogenic | 0.236 | Stabilizing | 0.929 | D | 0.715 | prob.delet. | None | None | None | None | N |
| K/Q | 0.2426 | likely_benign | 0.2104 | benign | -0.062 | Destabilizing | 0.83 | D | 0.7 | prob.neutral | N | 0.503389047 | None | None | N |
| K/R | 0.0869 | likely_benign | 0.0725 | benign | -0.064 | Destabilizing | 0.01 | N | 0.304 | neutral | N | 0.480996959 | None | None | N |
| K/S | 0.6491 | likely_pathogenic | 0.6035 | pathogenic | -0.375 | Destabilizing | 0.648 | D | 0.595 | neutral | None | None | None | None | N |
| K/T | 0.4354 | ambiguous | 0.427 | ambiguous | -0.211 | Destabilizing | 0.83 | D | 0.68 | prob.neutral | N | 0.508833859 | None | None | N |
| K/V | 0.6137 | likely_pathogenic | 0.5606 | ambiguous | 0.236 | Stabilizing | 0.866 | D | 0.737 | prob.delet. | None | None | None | None | N |
| K/W | 0.8888 | likely_pathogenic | 0.8238 | pathogenic | -0.283 | Destabilizing | 0.993 | D | 0.801 | deleterious | None | None | None | None | N |
| K/Y | 0.84 | likely_pathogenic | 0.772 | pathogenic | 0.074 | Stabilizing | 0.929 | D | 0.79 | 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.