Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33640 | 101143;101144;101145 | chr2:178535697;178535696;178535695 | chr2:179400424;179400423;179400422 |
| N2AB | 31999 | 96220;96221;96222 | chr2:178535697;178535696;178535695 | chr2:179400424;179400423;179400422 |
| N2A | 31072 | 93439;93440;93441 | chr2:178535697;178535696;178535695 | chr2:179400424;179400423;179400422 |
| N2B | 24575 | 73948;73949;73950 | chr2:178535697;178535696;178535695 | chr2:179400424;179400423;179400422 |
| Novex-1 | 24700 | 74323;74324;74325 | chr2:178535697;178535696;178535695 | chr2:179400424;179400423;179400422 |
| Novex-2 | 24767 | 74524;74525;74526 | chr2:178535697;178535696;178535695 | chr2:179400424;179400423;179400422 |
| 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/S | None | None | 0.999 | N | 0.469 | 0.257 | 0.107399877778 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs767492660  |
0.206 | 0.944 | N | 0.475 | 0.268 | 0.492611691308 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| G/V | rs767492660 |
0.206 | 0.944 | N | 0.475 | 0.268 | 0.492611691308 | gnomAD-4.0.0 | 3.18266E-06 | None | None | None | None | N | None | 0 | 2.28634E-05 | None | 0 | 0 | None | 0 | 0 | 2.85837E-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 | 0.3294 | likely_benign | 0.192 | benign | -0.148 | Destabilizing | 0.99 | D | 0.359 | neutral | N | 0.465233389 | None | None | N |
| G/C | 0.6069 | likely_pathogenic | 0.3595 | ambiguous | -0.566 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | N | 0.46343125 | None | None | N |
| G/D | 0.6148 | likely_pathogenic | 0.2855 | benign | -0.864 | Destabilizing | 0.999 | D | 0.501 | neutral | N | 0.441759096 | None | None | N |
| G/E | 0.6503 | likely_pathogenic | 0.2902 | benign | -1.033 | Destabilizing | 1.0 | D | 0.527 | neutral | None | None | None | None | N |
| G/F | 0.919 | likely_pathogenic | 0.7686 | pathogenic | -1.003 | Destabilizing | 1.0 | D | 0.648 | neutral | None | None | None | None | N |
| G/H | 0.7723 | likely_pathogenic | 0.473 | ambiguous | -0.545 | Destabilizing | 1.0 | D | 0.6 | neutral | None | None | None | None | N |
| G/I | 0.7187 | likely_pathogenic | 0.3963 | ambiguous | -0.321 | Destabilizing | 0.999 | D | 0.615 | neutral | None | None | None | None | N |
| G/K | 0.8328 | likely_pathogenic | 0.4941 | ambiguous | -0.807 | Destabilizing | 1.0 | D | 0.528 | neutral | None | None | None | None | N |
| G/L | 0.8175 | likely_pathogenic | 0.5733 | pathogenic | -0.321 | Destabilizing | 0.999 | D | 0.584 | neutral | None | None | None | None | N |
| G/M | 0.8412 | likely_pathogenic | 0.6353 | pathogenic | -0.348 | Destabilizing | 1.0 | D | 0.65 | neutral | None | None | None | None | N |
| G/N | 0.5302 | ambiguous | 0.3167 | benign | -0.276 | Destabilizing | 1.0 | D | 0.507 | neutral | None | None | None | None | N |
| G/P | 0.892 | likely_pathogenic | 0.7072 | pathogenic | -0.232 | Destabilizing | 0.458 | N | 0.343 | neutral | None | None | None | None | N |
| G/Q | 0.669 | likely_pathogenic | 0.3729 | ambiguous | -0.593 | Destabilizing | 1.0 | D | 0.577 | neutral | None | None | None | None | N |
| G/R | 0.71 | likely_pathogenic | 0.3777 | ambiguous | -0.354 | Destabilizing | 1.0 | D | 0.569 | neutral | N | 0.486686096 | None | None | N |
| G/S | 0.1751 | likely_benign | 0.1144 | benign | -0.315 | Destabilizing | 0.999 | D | 0.469 | neutral | N | 0.411052187 | None | None | N |
| G/T | 0.4328 | ambiguous | 0.2237 | benign | -0.434 | Destabilizing | 1.0 | D | 0.514 | neutral | None | None | None | None | N |
| G/V | 0.6114 | likely_pathogenic | 0.3144 | benign | -0.232 | Destabilizing | 0.944 | D | 0.475 | neutral | N | 0.462924271 | None | None | N |
| G/W | 0.882 | likely_pathogenic | 0.6595 | pathogenic | -1.192 | Destabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| G/Y | 0.8675 | likely_pathogenic | 0.63 | pathogenic | -0.833 | Destabilizing | 1.0 | D | 0.655 | 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.