Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29596 | 89011;89012;89013 | chr2:178554561;178554560;178554559 | chr2:179419288;179419287;179419286 |
| N2AB | 27955 | 84088;84089;84090 | chr2:178554561;178554560;178554559 | chr2:179419288;179419287;179419286 |
| N2A | 27028 | 81307;81308;81309 | chr2:178554561;178554560;178554559 | chr2:179419288;179419287;179419286 |
| N2B | 20531 | 61816;61817;61818 | chr2:178554561;178554560;178554559 | chr2:179419288;179419287;179419286 |
| Novex-1 | 20656 | 62191;62192;62193 | chr2:178554561;178554560;178554559 | chr2:179419288;179419287;179419286 |
| Novex-2 | 20723 | 62392;62393;62394 | chr2:178554561;178554560;178554559 | chr2:179419288;179419287;179419286 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | 0.201 | N | 0.407 | 0.155 | 0.151104730317 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| T/I | rs786205371  |
0.096 | 0.896 | D | 0.534 | 0.341 | 0.52186301387 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| T/I | rs786205371 |
0.096 | 0.896 | D | 0.534 | 0.341 | 0.52186301387 | gnomAD-4.0.0 | 4.78925E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29599E-06 | 0 | 0 |
| T/S | rs786205371 |
-0.466 | 0.016 | N | 0.177 | 0.078 | 0.154104182512 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.34E-05 | 0 |
| T/S | rs786205371 |
-0.466 | 0.016 | N | 0.177 | 0.078 | 0.154104182512 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| T/S | rs786205371 |
-0.466 | 0.016 | N | 0.177 | 0.078 | 0.154104182512 | gnomAD-4.0.0 | 1.54928E-05 | None | None | None | None | N | None | 1.3354E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.77991E-05 | 0 | 4.80369E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0856 | likely_benign | 0.0914 | benign | -0.361 | Destabilizing | 0.201 | N | 0.407 | neutral | N | 0.508824742 | None | None | N |
| T/C | 0.4542 | ambiguous | 0.4728 | ambiguous | -0.338 | Destabilizing | 0.992 | D | 0.511 | neutral | None | None | None | None | N |
| T/D | 0.4565 | ambiguous | 0.5134 | ambiguous | 0.218 | Stabilizing | 0.617 | D | 0.487 | neutral | None | None | None | None | N |
| T/E | 0.3894 | ambiguous | 0.4201 | ambiguous | 0.154 | Stabilizing | 0.617 | D | 0.484 | neutral | None | None | None | None | N |
| T/F | 0.394 | ambiguous | 0.44 | ambiguous | -0.737 | Destabilizing | 0.92 | D | 0.577 | neutral | None | None | None | None | N |
| T/G | 0.1599 | likely_benign | 0.1826 | benign | -0.516 | Destabilizing | 0.447 | N | 0.491 | neutral | None | None | None | None | N |
| T/H | 0.2945 | likely_benign | 0.3251 | benign | -0.763 | Destabilizing | 0.977 | D | 0.552 | neutral | None | None | None | None | N |
| T/I | 0.2843 | likely_benign | 0.3006 | benign | -0.07 | Destabilizing | 0.896 | D | 0.534 | neutral | D | 0.523967553 | None | None | N |
| T/K | 0.2683 | likely_benign | 0.2754 | benign | -0.425 | Destabilizing | 0.447 | N | 0.489 | neutral | None | None | None | None | N |
| T/L | 0.1369 | likely_benign | 0.1462 | benign | -0.07 | Destabilizing | 0.617 | D | 0.439 | neutral | None | None | None | None | N |
| T/M | 0.1217 | likely_benign | 0.1247 | benign | 0.012 | Stabilizing | 0.992 | D | 0.519 | neutral | None | None | None | None | N |
| T/N | 0.1242 | likely_benign | 0.14 | benign | -0.234 | Destabilizing | 0.379 | N | 0.435 | neutral | N | 0.489545548 | None | None | N |
| T/P | 0.1125 | likely_benign | 0.1216 | benign | -0.137 | Destabilizing | 0.002 | N | 0.203 | neutral | N | 0.473192016 | None | None | N |
| T/Q | 0.221 | likely_benign | 0.2348 | benign | -0.444 | Destabilizing | 0.85 | D | 0.546 | neutral | None | None | None | None | N |
| T/R | 0.2516 | likely_benign | 0.2698 | benign | -0.147 | Destabilizing | 0.85 | D | 0.539 | neutral | None | None | None | None | N |
| T/S | 0.0896 | likely_benign | 0.1009 | benign | -0.467 | Destabilizing | 0.016 | N | 0.177 | neutral | N | 0.447389495 | None | None | N |
| T/V | 0.1749 | likely_benign | 0.1836 | benign | -0.137 | Destabilizing | 0.617 | D | 0.387 | neutral | None | None | None | None | N |
| T/W | 0.7088 | likely_pathogenic | 0.739 | pathogenic | -0.731 | Destabilizing | 0.992 | D | 0.613 | neutral | None | None | None | None | N |
| T/Y | 0.4129 | ambiguous | 0.4501 | ambiguous | -0.46 | Destabilizing | 0.972 | D | 0.578 | 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.