Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4883 | 14872;14873;14874 | chr2:178735799;178735798;178735797 | chr2:179600526;179600525;179600524 |
| N2AB | 4566 | 13921;13922;13923 | chr2:178735799;178735798;178735797 | chr2:179600526;179600525;179600524 |
| N2A | 3639 | 11140;11141;11142 | chr2:178735799;178735798;178735797 | chr2:179600526;179600525;179600524 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/N | None | None | None | N | 0.221 | 0.119 | None | gnomAD-4.0.0 | 1.59151E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85822E-06 | 0 | 0 |
| I/S | rs369548127  |
-1.259 | None | N | 0.14 | 0.087 | 0.219573609325 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/S | rs369548127 |
-1.259 | None | N | 0.14 | 0.087 | 0.219573609325 | gnomAD-4.0.0 | 1.59151E-06 | None | None | None | None | N | None | 0 | 2.28707E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs369548127 |
-1.063 | None | N | 0.123 | 0.107 | 0.181679512989 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.6E-05 | None | 0 | None | 0 | 0 | 0 |
| I/T | rs369548127 |
-1.063 | None | N | 0.123 | 0.107 | 0.181679512989 | gnomAD-4.0.0 | 3.18301E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.55556E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.1926 | likely_benign | 0.1437 | benign | -1.635 | Destabilizing | None | N | 0.118 | neutral | None | None | None | None | N |
| I/C | 0.4984 | ambiguous | 0.4229 | ambiguous | -1.021 | Destabilizing | 0.245 | N | 0.393 | neutral | None | None | None | None | N |
| I/D | 0.3413 | ambiguous | 0.2487 | benign | -0.859 | Destabilizing | None | N | 0.208 | neutral | None | None | None | None | N |
| I/E | 0.2972 | likely_benign | 0.2211 | benign | -0.837 | Destabilizing | 0.004 | N | 0.381 | neutral | None | None | None | None | N |
| I/F | 0.1108 | likely_benign | 0.0887 | benign | -1.01 | Destabilizing | 0.033 | N | 0.295 | neutral | N | 0.511094506 | None | None | N |
| I/G | 0.3984 | ambiguous | 0.3036 | benign | -1.973 | Destabilizing | 0.004 | N | 0.357 | neutral | None | None | None | None | N |
| I/H | 0.2362 | likely_benign | 0.1812 | benign | -1.062 | Destabilizing | 0.245 | N | 0.499 | neutral | None | None | None | None | N |
| I/K | 0.1922 | likely_benign | 0.1453 | benign | -1.072 | Destabilizing | None | N | 0.203 | neutral | None | None | None | None | N |
| I/L | 0.0888 | likely_benign | 0.0785 | benign | -0.776 | Destabilizing | 0.001 | N | 0.223 | neutral | N | 0.465070562 | None | None | N |
| I/M | 0.0805 | likely_benign | 0.0745 | benign | -0.662 | Destabilizing | 0.108 | N | 0.323 | neutral | N | 0.51019007 | None | None | N |
| I/N | 0.104 | likely_benign | 0.0808 | benign | -0.918 | Destabilizing | None | N | 0.221 | neutral | N | 0.465947212 | None | None | N |
| I/P | 0.7455 | likely_pathogenic | 0.6713 | pathogenic | -1.031 | Destabilizing | 0.085 | N | 0.529 | neutral | None | None | None | None | N |
| I/Q | 0.2157 | likely_benign | 0.1665 | benign | -1.072 | Destabilizing | 0.044 | N | 0.527 | neutral | None | None | None | None | N |
| I/R | 0.1365 | likely_benign | 0.1065 | benign | -0.492 | Destabilizing | None | N | 0.236 | neutral | None | None | None | None | N |
| I/S | 0.1322 | likely_benign | 0.1017 | benign | -1.597 | Destabilizing | None | N | 0.14 | neutral | N | 0.475378543 | None | None | N |
| I/T | 0.0893 | likely_benign | 0.0728 | benign | -1.459 | Destabilizing | None | N | 0.123 | neutral | N | 0.386896842 | None | None | N |
| I/V | 0.0735 | likely_benign | 0.0659 | benign | -1.031 | Destabilizing | None | N | 0.083 | neutral | N | 0.476599043 | None | None | N |
| I/W | 0.5836 | likely_pathogenic | 0.5277 | ambiguous | -1.057 | Destabilizing | None | N | 0.347 | neutral | None | None | None | None | N |
| I/Y | 0.2909 | likely_benign | 0.2313 | benign | -0.845 | Destabilizing | 0.044 | N | 0.443 | neutral | 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.