Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18428 | 55507;55508;55509 | chr2:178601902;178601901;178601900 | chr2:179466629;179466628;179466627 |
| N2AB | 16787 | 50584;50585;50586 | chr2:178601902;178601901;178601900 | chr2:179466629;179466628;179466627 |
| N2A | 15860 | 47803;47804;47805 | chr2:178601902;178601901;178601900 | chr2:179466629;179466628;179466627 |
| N2B | 9363 | 28312;28313;28314 | chr2:178601902;178601901;178601900 | chr2:179466629;179466628;179466627 |
| Novex-1 | 9488 | 28687;28688;28689 | chr2:178601902;178601901;178601900 | chr2:179466629;179466628;179466627 |
| Novex-2 | 9555 | 28888;28889;28890 | chr2:178601902;178601901;178601900 | chr2:179466629;179466628;179466627 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs1343753783  |
-0.618 | 0.001 | N | 0.2 | 0.026 | 0.0551355673512 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| D/E | rs1343753783 |
-0.618 | 0.001 | N | 0.2 | 0.026 | 0.0551355673512 | gnomAD-4.0.0 | 6.84838E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9993E-07 | 0 | 0 |
| D/G | rs1430526014 |
-0.758 | 0.027 | N | 0.505 | 0.09 | 0.12205267543 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| D/G | rs1430526014 |
-0.758 | 0.027 | N | 0.505 | 0.09 | 0.12205267543 | gnomAD-4.0.0 | 1.59451E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43505E-05 | 0 |
| D/N | None | None | None | N | 0.221 | 0.077 | 0.110078149338 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.1115 | likely_benign | 0.1048 | benign | -0.372 | Destabilizing | 0.117 | N | 0.564 | neutral | N | 0.438102716 | None | None | N |
| D/C | 0.3276 | likely_benign | 0.2698 | benign | -0.252 | Destabilizing | 0.935 | D | 0.637 | neutral | None | None | None | None | N |
| D/E | 0.1291 | likely_benign | 0.1206 | benign | -0.899 | Destabilizing | 0.001 | N | 0.2 | neutral | N | 0.403392709 | None | None | N |
| D/F | 0.3537 | ambiguous | 0.2943 | benign | -0.405 | Destabilizing | 0.791 | D | 0.639 | neutral | None | None | None | None | N |
| D/G | 0.1573 | likely_benign | 0.1449 | benign | -0.706 | Destabilizing | 0.027 | N | 0.505 | neutral | N | 0.438449432 | None | None | N |
| D/H | 0.1744 | likely_benign | 0.1531 | benign | -0.895 | Destabilizing | 0.317 | N | 0.603 | neutral | N | 0.457035193 | None | None | N |
| D/I | 0.1641 | likely_benign | 0.1409 | benign | 0.498 | Stabilizing | 0.555 | D | 0.643 | neutral | None | None | None | None | N |
| D/K | 0.2538 | likely_benign | 0.2313 | benign | -0.694 | Destabilizing | 0.081 | N | 0.553 | neutral | None | None | None | None | N |
| D/L | 0.2095 | likely_benign | 0.1752 | benign | 0.498 | Stabilizing | 0.149 | N | 0.621 | neutral | None | None | None | None | N |
| D/M | 0.3467 | ambiguous | 0.2887 | benign | 0.97 | Stabilizing | 0.935 | D | 0.622 | neutral | None | None | None | None | N |
| D/N | 0.0644 | likely_benign | 0.0574 | benign | -0.93 | Destabilizing | None | N | 0.221 | neutral | N | 0.401451269 | None | None | N |
| D/P | 0.556 | ambiguous | 0.5595 | ambiguous | 0.234 | Stabilizing | 0.555 | D | 0.585 | neutral | None | None | None | None | N |
| D/Q | 0.2291 | likely_benign | 0.1993 | benign | -0.786 | Destabilizing | 0.149 | N | 0.579 | neutral | None | None | None | None | N |
| D/R | 0.2895 | likely_benign | 0.2608 | benign | -0.667 | Destabilizing | 0.149 | N | 0.581 | neutral | None | None | None | None | N |
| D/S | 0.0899 | likely_benign | 0.0816 | benign | -1.213 | Destabilizing | 0.035 | N | 0.528 | neutral | None | None | None | None | N |
| D/T | 0.1331 | likely_benign | 0.1198 | benign | -0.95 | Destabilizing | 0.081 | N | 0.553 | neutral | None | None | None | None | N |
| D/V | 0.113 | likely_benign | 0.1018 | benign | 0.234 | Stabilizing | 0.484 | N | 0.636 | neutral | N | 0.393695791 | None | None | N |
| D/W | 0.7601 | likely_pathogenic | 0.6903 | pathogenic | -0.466 | Destabilizing | 0.935 | D | 0.651 | neutral | None | None | None | None | N |
| D/Y | 0.1431 | likely_benign | 0.1236 | benign | -0.248 | Destabilizing | 0.741 | D | 0.643 | neutral | N | 0.456861835 | 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.