Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6427 | 19504;19505;19506 | chr2:178728647;178728646;178728645 | chr2:179593374;179593373;179593372 |
| N2AB | 6110 | 18553;18554;18555 | chr2:178728647;178728646;178728645 | chr2:179593374;179593373;179593372 |
| N2A | 5183 | 15772;15773;15774 | chr2:178728647;178728646;178728645 | chr2:179593374;179593373;179593372 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/H | None | None | 1.0 | N | 0.542 | 0.457 | 0.740245011328 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| P/S | rs770277382  |
-0.205 | 0.592 | N | 0.312 | 0.241 | 0.289098819767 | gnomAD-2.1.1 | 4.03E-05 | None | None | None | None | N | None | 0 | 2.90884E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/S | rs770277382 |
-0.205 | 0.592 | N | 0.312 | 0.241 | 0.289098819767 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 2.62226E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs770277382 |
-0.205 | 0.592 | N | 0.312 | 0.241 | 0.289098819767 | gnomAD-4.0.0 | 1.92304E-05 | None | None | None | None | N | None | 0 | 2.546E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | None | None | 0.978 | N | 0.379 | 0.345 | 0.565975473979 | gnomAD-4.0.0 | 1.59247E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77855E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1314 | likely_benign | 0.1073 | benign | -0.455 | Destabilizing | 0.948 | D | 0.381 | neutral | N | 0.442706899 | None | None | N |
| P/C | 0.8531 | likely_pathogenic | 0.751 | pathogenic | -0.718 | Destabilizing | 1.0 | D | 0.614 | neutral | None | None | None | None | N |
| P/D | 0.7489 | likely_pathogenic | 0.5988 | pathogenic | -0.207 | Destabilizing | 0.992 | D | 0.357 | neutral | None | None | None | None | N |
| P/E | 0.5804 | likely_pathogenic | 0.4287 | ambiguous | -0.306 | Destabilizing | 0.992 | D | 0.364 | neutral | None | None | None | None | N |
| P/F | 0.8252 | likely_pathogenic | 0.6894 | pathogenic | -0.645 | Destabilizing | 1.0 | D | 0.597 | neutral | None | None | None | None | N |
| P/G | 0.5061 | ambiguous | 0.4165 | ambiguous | -0.59 | Destabilizing | 0.992 | D | 0.438 | neutral | None | None | None | None | N |
| P/H | 0.4669 | ambiguous | 0.3286 | benign | -0.151 | Destabilizing | 1.0 | D | 0.542 | neutral | N | 0.520052961 | None | None | N |
| P/I | 0.7309 | likely_pathogenic | 0.5927 | pathogenic | -0.243 | Destabilizing | 0.999 | D | 0.613 | neutral | None | None | None | None | N |
| P/K | 0.6894 | likely_pathogenic | 0.495 | ambiguous | -0.445 | Destabilizing | 0.992 | D | 0.361 | neutral | None | None | None | None | N |
| P/L | 0.3116 | likely_benign | 0.2107 | benign | -0.243 | Destabilizing | 0.998 | D | 0.519 | neutral | N | 0.474896675 | None | None | N |
| P/M | 0.6565 | likely_pathogenic | 0.5304 | ambiguous | -0.421 | Destabilizing | 1.0 | D | 0.543 | neutral | None | None | None | None | N |
| P/N | 0.5867 | likely_pathogenic | 0.4723 | ambiguous | -0.238 | Destabilizing | 0.998 | D | 0.467 | neutral | None | None | None | None | N |
| P/Q | 0.3608 | ambiguous | 0.261 | benign | -0.432 | Destabilizing | 0.999 | D | 0.421 | neutral | None | None | None | None | N |
| P/R | 0.4906 | ambiguous | 0.3158 | benign | 0.021 | Stabilizing | 0.998 | D | 0.549 | neutral | D | 0.529325806 | None | None | N |
| P/S | 0.195 | likely_benign | 0.1564 | benign | -0.609 | Destabilizing | 0.592 | D | 0.312 | neutral | N | 0.410111691 | None | None | N |
| P/T | 0.2317 | likely_benign | 0.1723 | benign | -0.6 | Destabilizing | 0.978 | D | 0.379 | neutral | N | 0.484900238 | None | None | N |
| P/V | 0.5312 | ambiguous | 0.4104 | ambiguous | -0.28 | Destabilizing | 0.999 | D | 0.453 | neutral | None | None | None | None | N |
| P/W | 0.9004 | likely_pathogenic | 0.8093 | pathogenic | -0.735 | Destabilizing | 1.0 | D | 0.628 | neutral | None | None | None | None | N |
| P/Y | 0.789 | likely_pathogenic | 0.6423 | pathogenic | -0.436 | Destabilizing | 1.0 | D | 0.599 | 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.