Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31156 | 93691;93692;93693 | chr2:178548160;178548159;178548158 | chr2:179412887;179412886;179412885 |
| N2AB | 29515 | 88768;88769;88770 | chr2:178548160;178548159;178548158 | chr2:179412887;179412886;179412885 |
| N2A | 28588 | 85987;85988;85989 | chr2:178548160;178548159;178548158 | chr2:179412887;179412886;179412885 |
| N2B | 22091 | 66496;66497;66498 | chr2:178548160;178548159;178548158 | chr2:179412887;179412886;179412885 |
| Novex-1 | 22216 | 66871;66872;66873 | chr2:178548160;178548159;178548158 | chr2:179412887;179412886;179412885 |
| Novex-2 | 22283 | 67072;67073;67074 | chr2:178548160;178548159;178548158 | chr2:179412887;179412886;179412885 |
| 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/A | None | None | 1.0 | N | 0.504 | 0.547 | 0.340992353424 | gnomAD-4.0.0 | 6.84177E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99446E-07 | 0 | 0 |
| G/V | None | None | 1.0 | N | 0.659 | 0.64 | 0.599340405529 | gnomAD-4.0.0 | 5.47342E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.19556E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2662 | likely_benign | 0.2423 | benign | -0.269 | Destabilizing | 1.0 | D | 0.504 | neutral | N | 0.51580943 | None | None | N |
| G/C | 0.4186 | ambiguous | 0.3562 | ambiguous | -0.897 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| G/D | 0.164 | likely_benign | 0.1286 | benign | -0.667 | Destabilizing | 1.0 | D | 0.506 | neutral | None | None | None | None | N |
| G/E | 0.2848 | likely_benign | 0.2325 | benign | -0.84 | Destabilizing | 1.0 | D | 0.611 | neutral | D | 0.526004994 | None | None | N |
| G/F | 0.7576 | likely_pathogenic | 0.7117 | pathogenic | -1.069 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| G/H | 0.5356 | ambiguous | 0.4368 | ambiguous | -0.414 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | N |
| G/I | 0.5818 | likely_pathogenic | 0.5092 | ambiguous | -0.516 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| G/K | 0.6695 | likely_pathogenic | 0.5742 | pathogenic | -0.73 | Destabilizing | 1.0 | D | 0.613 | neutral | None | None | None | None | N |
| G/L | 0.6993 | likely_pathogenic | 0.648 | pathogenic | -0.516 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| G/M | 0.6972 | likely_pathogenic | 0.6539 | pathogenic | -0.57 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| G/N | 0.2422 | likely_benign | 0.2098 | benign | -0.376 | Destabilizing | 1.0 | D | 0.525 | neutral | None | None | None | None | N |
| G/P | 0.9171 | likely_pathogenic | 0.8912 | pathogenic | -0.406 | Destabilizing | 1.0 | D | 0.626 | neutral | None | None | None | None | N |
| G/Q | 0.5047 | ambiguous | 0.4122 | ambiguous | -0.688 | Destabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | N |
| G/R | 0.6089 | likely_pathogenic | 0.4998 | ambiguous | -0.261 | Destabilizing | 1.0 | D | 0.627 | neutral | N | 0.474815506 | None | None | N |
| G/S | 0.1504 | likely_benign | 0.1324 | benign | -0.49 | Destabilizing | 1.0 | D | 0.537 | neutral | None | None | None | None | N |
| G/T | 0.2837 | likely_benign | 0.2621 | benign | -0.603 | Destabilizing | 1.0 | D | 0.611 | neutral | None | None | None | None | N |
| G/V | 0.4371 | ambiguous | 0.3816 | ambiguous | -0.406 | Destabilizing | 1.0 | D | 0.659 | neutral | N | 0.479210052 | None | None | N |
| G/W | 0.6502 | likely_pathogenic | 0.5442 | ambiguous | -1.172 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| G/Y | 0.577 | likely_pathogenic | 0.5167 | ambiguous | -0.851 | Destabilizing | 1.0 | D | 0.66 | 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.