Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6013 | 18262;18263;18264 | chr2:178730363;178730362;178730361 | chr2:179595090;179595089;179595088 |
| N2AB | 5696 | 17311;17312;17313 | chr2:178730363;178730362;178730361 | chr2:179595090;179595089;179595088 |
| N2A | 4769 | 14530;14531;14532 | chr2:178730363;178730362;178730361 | chr2:179595090;179595089;179595088 |
| 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/H | rs548015673  |
0.654 | 0.989 | N | 0.526 | 0.23 | None | gnomAD-2.1.1 | 5.15E-05 | None | None | None | None | N | None | 6.68E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.0396E-04 | 0 |
| Y/H | rs548015673 |
0.654 | 0.989 | N | 0.526 | 0.23 | None | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.02911E-04 | 0 | 0 |
| Y/H | rs548015673 |
0.654 | 0.989 | N | 0.526 | 0.23 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| Y/H | rs548015673 |
0.654 | 0.989 | N | 0.526 | 0.23 | None | gnomAD-4.0.0 | 1.17805E-04 | None | None | None | None | N | None | 2.69143E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.56307E-04 | 0 | 4.86271E-05 |
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 | 0.2589 | likely_benign | 0.3017 | benign | -1.341 | Destabilizing | 0.525 | D | 0.373 | neutral | None | None | None | None | N |
| Y/C | 0.1065 | likely_benign | 0.1201 | benign | -0.533 | Destabilizing | 0.012 | N | 0.305 | neutral | N | 0.482822725 | None | None | N |
| Y/D | 0.2448 | likely_benign | 0.2549 | benign | 0.279 | Stabilizing | 0.801 | D | 0.548 | neutral | N | 0.485457598 | None | None | N |
| Y/E | 0.4591 | ambiguous | 0.5152 | ambiguous | 0.334 | Stabilizing | 0.842 | D | 0.549 | neutral | None | None | None | None | N |
| Y/F | 0.0726 | likely_benign | 0.0737 | benign | -0.436 | Destabilizing | 0.961 | D | 0.475 | neutral | N | 0.495309233 | None | None | N |
| Y/G | 0.316 | likely_benign | 0.3593 | ambiguous | -1.596 | Destabilizing | 0.842 | D | 0.508 | neutral | None | None | None | None | N |
| Y/H | 0.118 | likely_benign | 0.1306 | benign | -0.089 | Destabilizing | 0.989 | D | 0.526 | neutral | N | 0.476107396 | None | None | N |
| Y/I | 0.2237 | likely_benign | 0.2578 | benign | -0.618 | Destabilizing | 0.842 | D | 0.534 | neutral | None | None | None | None | N |
| Y/K | 0.4348 | ambiguous | 0.4837 | ambiguous | -0.549 | Destabilizing | 0.842 | D | 0.555 | neutral | None | None | None | None | N |
| Y/L | 0.3043 | likely_benign | 0.3365 | benign | -0.618 | Destabilizing | 0.525 | D | 0.449 | neutral | None | None | None | None | N |
| Y/M | 0.4339 | ambiguous | 0.4711 | ambiguous | -0.565 | Destabilizing | 0.991 | D | 0.501 | neutral | None | None | None | None | N |
| Y/N | 0.1323 | likely_benign | 0.1484 | benign | -0.978 | Destabilizing | 0.801 | D | 0.564 | neutral | N | 0.463100814 | None | None | N |
| Y/P | 0.9414 | likely_pathogenic | 0.9638 | pathogenic | -0.847 | Destabilizing | 0.974 | D | 0.535 | neutral | None | None | None | None | N |
| Y/Q | 0.28 | likely_benign | 0.3345 | benign | -0.828 | Destabilizing | 0.974 | D | 0.54 | neutral | None | None | None | None | N |
| Y/R | 0.2449 | likely_benign | 0.2854 | benign | -0.258 | Destabilizing | 0.974 | D | 0.535 | neutral | None | None | None | None | N |
| Y/S | 0.098 | likely_benign | 0.1045 | benign | -1.452 | Destabilizing | 0.062 | N | 0.292 | neutral | N | 0.395702386 | None | None | N |
| Y/T | 0.1788 | likely_benign | 0.1998 | benign | -1.303 | Destabilizing | 0.728 | D | 0.499 | neutral | None | None | None | None | N |
| Y/V | 0.1662 | likely_benign | 0.1951 | benign | -0.847 | Destabilizing | 0.842 | D | 0.492 | neutral | None | None | None | None | N |
| Y/W | 0.3918 | ambiguous | 0.4235 | ambiguous | -0.271 | Destabilizing | 0.998 | D | 0.522 | 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.