Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30082 | 90469;90470;90471 | chr2:178552656;178552655;178552654 | chr2:179417383;179417382;179417381 |
| N2AB | 28441 | 85546;85547;85548 | chr2:178552656;178552655;178552654 | chr2:179417383;179417382;179417381 |
| N2A | 27514 | 82765;82766;82767 | chr2:178552656;178552655;178552654 | chr2:179417383;179417382;179417381 |
| N2B | 21017 | 63274;63275;63276 | chr2:178552656;178552655;178552654 | chr2:179417383;179417382;179417381 |
| Novex-1 | 21142 | 63649;63650;63651 | chr2:178552656;178552655;178552654 | chr2:179417383;179417382;179417381 |
| Novex-2 | 21209 | 63850;63851;63852 | chr2:178552656;178552655;178552654 | chr2:179417383;179417382;179417381 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/M | rs886038812  |
-0.194 | 0.003 | N | 0.163 | 0.045 | 0.226586394389 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 1.14705E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/M | rs886038812 |
-0.194 | 0.003 | N | 0.163 | 0.045 | 0.226586394389 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/M | rs886038812 |
-0.194 | 0.003 | N | 0.163 | 0.045 | 0.226586394389 | gnomAD-4.0.0 | 3.09814E-06 | None | None | None | None | N | None | 1.33415E-05 | 0 | None | 0 | 4.45792E-05 | None | 0 | 0 | 1.6951E-06 | 0 | 0 |
| I/V | rs777636306 |
-0.124 | None | N | 0.111 | 0.052 | 0.259272394797 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| I/V | rs777636306 |
-0.124 | None | N | 0.111 | 0.052 | 0.259272394797 | gnomAD-4.0.0 | 6.84162E-06 | None | None | None | None | N | None | 0 | 2.23614E-05 | None | 0 | 0 | None | 0 | 1.7343E-04 | 5.39647E-06 | 1.15934E-05 | 1.6564E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.1943 | likely_benign | 0.1659 | benign | -1.05 | Destabilizing | 0.025 | N | 0.264 | neutral | None | None | None | None | N |
| I/C | 0.455 | ambiguous | 0.4095 | ambiguous | -0.693 | Destabilizing | 0.667 | D | 0.439 | neutral | None | None | None | None | N |
| I/D | 0.4564 | ambiguous | 0.3952 | ambiguous | -0.467 | Destabilizing | 0.22 | N | 0.529 | neutral | None | None | None | None | N |
| I/E | 0.3672 | ambiguous | 0.3266 | benign | -0.518 | Destabilizing | 0.22 | N | 0.459 | neutral | None | None | None | None | N |
| I/F | 0.1147 | likely_benign | 0.1023 | benign | -0.782 | Destabilizing | 0.22 | N | 0.383 | neutral | None | None | None | None | N |
| I/G | 0.4173 | ambiguous | 0.3522 | ambiguous | -1.292 | Destabilizing | 0.22 | N | 0.416 | neutral | None | None | None | None | N |
| I/H | 0.2804 | likely_benign | 0.2463 | benign | -0.481 | Destabilizing | 0.859 | D | 0.434 | neutral | None | None | None | None | N |
| I/K | 0.1999 | likely_benign | 0.1797 | benign | -0.705 | Destabilizing | 0.175 | N | 0.463 | neutral | N | 0.380820573 | None | None | N |
| I/L | 0.1033 | likely_benign | 0.096 | benign | -0.502 | Destabilizing | 0.003 | N | 0.155 | neutral | N | 0.423741844 | None | None | N |
| I/M | 0.0933 | likely_benign | 0.0882 | benign | -0.464 | Destabilizing | 0.003 | N | 0.163 | neutral | N | 0.426688935 | None | None | N |
| I/N | 0.1292 | likely_benign | 0.1109 | benign | -0.469 | Destabilizing | 0.22 | N | 0.52 | neutral | None | None | None | None | N |
| I/P | 0.5727 | likely_pathogenic | 0.5092 | ambiguous | -0.651 | Destabilizing | 0.364 | N | 0.522 | neutral | None | None | None | None | N |
| I/Q | 0.2564 | likely_benign | 0.2296 | benign | -0.672 | Destabilizing | 0.497 | N | 0.525 | neutral | None | None | None | None | N |
| I/R | 0.1885 | likely_benign | 0.163 | benign | -0.108 | Destabilizing | 0.175 | N | 0.538 | neutral | N | 0.385514317 | None | None | N |
| I/S | 0.1458 | likely_benign | 0.1212 | benign | -0.994 | Destabilizing | 0.055 | N | 0.365 | neutral | None | None | None | None | N |
| I/T | 0.1099 | likely_benign | 0.0971 | benign | -0.932 | Destabilizing | None | N | 0.204 | neutral | N | 0.310728556 | None | None | N |
| I/V | 0.0711 | likely_benign | 0.0661 | benign | -0.651 | Destabilizing | None | N | 0.111 | neutral | N | 0.379486847 | None | None | N |
| I/W | 0.6371 | likely_pathogenic | 0.602 | pathogenic | -0.809 | Destabilizing | 0.958 | D | 0.446 | neutral | None | None | None | None | N |
| I/Y | 0.3325 | likely_benign | 0.3015 | benign | -0.588 | Destabilizing | 0.667 | 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.