Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8394 | 25405;25406;25407 | chr2:178717694;178717693;178717692 | chr2:179582421;179582420;179582419 |
| N2AB | 8077 | 24454;24455;24456 | chr2:178717694;178717693;178717692 | chr2:179582421;179582420;179582419 |
| N2A | 7150 | 21673;21674;21675 | chr2:178717694;178717693;178717692 | chr2:179582421;179582420;179582419 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | None | None | 0.999 | N | 0.549 | 0.351 | 0.432493127443 | gnomAD-4.0.0 | 4.10614E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49798E-06 | 1.15972E-05 | 0 |
| Y/D | rs898098652  |
-1.457 | 0.957 | N | 0.589 | 0.306 | 0.582449840715 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 0 | 2.84E-05 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
| Y/D | rs898098652 |
-1.457 | 0.957 | N | 0.589 | 0.306 | 0.582449840715 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| Y/D | rs898098652 |
-1.457 | 0.957 | N | 0.589 | 0.306 | 0.582449840715 | gnomAD-4.0.0 | 2.85116E-05 | None | None | None | None | N | None | 0 | 1.66739E-05 | None | 0 | 0 | None | 0 | 0 | 3.64524E-05 | 0 | 3.20359E-05 |
| Y/H | rs898098652 |
-1.211 | 0.979 | N | 0.505 | 0.244 | 0.304108284078 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| Y/H | rs898098652 |
-1.211 | 0.979 | N | 0.505 | 0.244 | 0.304108284078 | gnomAD-4.0.0 | 6.84351E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99588E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.6974 | likely_pathogenic | 0.7126 | pathogenic | -2.391 | Highly Destabilizing | 0.924 | D | 0.489 | neutral | None | None | None | None | N |
| Y/C | 0.3554 | ambiguous | 0.3454 | ambiguous | -1.142 | Destabilizing | 0.999 | D | 0.549 | neutral | N | 0.495141584 | None | None | N |
| Y/D | 0.595 | likely_pathogenic | 0.6524 | pathogenic | -0.698 | Destabilizing | 0.957 | D | 0.589 | neutral | N | 0.462794188 | None | None | N |
| Y/E | 0.684 | likely_pathogenic | 0.712 | pathogenic | -0.597 | Destabilizing | 0.937 | D | 0.52 | neutral | None | None | None | None | N |
| Y/F | 0.096 | likely_benign | 0.0874 | benign | -1.058 | Destabilizing | 0.008 | N | 0.21 | neutral | N | 0.450828792 | None | None | N |
| Y/G | 0.634 | likely_pathogenic | 0.6498 | pathogenic | -2.703 | Highly Destabilizing | 0.984 | D | 0.526 | neutral | None | None | None | None | N |
| Y/H | 0.2085 | likely_benign | 0.1991 | benign | -1.012 | Destabilizing | 0.979 | D | 0.505 | neutral | N | 0.456780253 | None | None | N |
| Y/I | 0.6635 | likely_pathogenic | 0.6635 | pathogenic | -1.438 | Destabilizing | 0.191 | N | 0.455 | neutral | None | None | None | None | N |
| Y/K | 0.6568 | likely_pathogenic | 0.6876 | pathogenic | -1.012 | Destabilizing | 0.642 | D | 0.538 | neutral | None | None | None | None | N |
| Y/L | 0.553 | ambiguous | 0.5329 | ambiguous | -1.438 | Destabilizing | 0.002 | N | 0.296 | neutral | None | None | None | None | N |
| Y/M | 0.6384 | likely_pathogenic | 0.621 | pathogenic | -1.159 | Destabilizing | 0.444 | N | 0.349 | neutral | None | None | None | None | N |
| Y/N | 0.2464 | likely_benign | 0.264 | benign | -1.247 | Destabilizing | 0.994 | D | 0.59 | neutral | N | 0.47653035 | None | None | N |
| Y/P | 0.9935 | likely_pathogenic | 0.9954 | pathogenic | -1.752 | Destabilizing | 0.998 | D | 0.59 | neutral | None | None | None | None | N |
| Y/Q | 0.5052 | ambiguous | 0.5228 | ambiguous | -1.224 | Destabilizing | 0.127 | N | 0.275 | neutral | None | None | None | None | N |
| Y/R | 0.5075 | ambiguous | 0.5326 | ambiguous | -0.545 | Destabilizing | 0.925 | D | 0.575 | neutral | None | None | None | None | N |
| Y/S | 0.2791 | likely_benign | 0.2948 | benign | -1.946 | Destabilizing | 0.957 | D | 0.531 | neutral | N | 0.438800903 | None | None | N |
| Y/T | 0.5394 | ambiguous | 0.5554 | ambiguous | -1.751 | Destabilizing | 0.984 | D | 0.54 | neutral | None | None | None | None | N |
| Y/V | 0.558 | ambiguous | 0.5569 | ambiguous | -1.752 | Destabilizing | 0.859 | D | 0.447 | neutral | None | None | None | None | N |
| Y/W | 0.4757 | ambiguous | 0.4909 | ambiguous | -0.507 | Destabilizing | 0.997 | D | 0.523 | 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.