Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5435 | 16528;16529;16530 | chr2:178732873;178732872;178732871 | chr2:179597600;179597599;179597598 |
| N2AB | 5118 | 15577;15578;15579 | chr2:178732873;178732872;178732871 | chr2:179597600;179597599;179597598 |
| N2A | 4191 | 12796;12797;12798 | chr2:178732873;178732872;178732871 | chr2:179597600;179597599;179597598 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/M | rs72648937  |
-0.297 | 0.086 | N | 0.27 | 0.13 | None | gnomAD-2.1.1 | 5.98837E-03 | None | None | None | None | I | None | 6.16008E-03 | 2.0135E-03 | None | 1.04793E-02 | 1.03061E-04 | None | 3.60443E-03 | None | 3.68915E-03 | 8.68303E-03 | 4.64789E-03 |
| V/M | rs72648937 |
-0.297 | 0.086 | N | 0.27 | 0.13 | None | gnomAD-3.1.2 | 6.49248E-03 | None | None | None | None | I | None | 5.42639E-03 | 2.22601E-03 | 0 | 9.79827E-03 | 3.85654E-04 | None | 3.29691E-03 | 0 | 9.24728E-03 | 2.27932E-03 | 8.60421E-03 |
| V/M | rs72648937 |
-0.297 | 0.086 | N | 0.27 | 0.13 | None | 1000 genomes | 3.59425E-03 | None | None | None | None | I | None | 5.3E-03 | 0 | None | None | 0 | 1.09E-02 | None | None | None | 0 | None |
| V/M | rs72648937 |
-0.297 | 0.086 | N | 0.27 | 0.13 | None | gnomAD-4.0.0 | 8.05303E-03 | None | None | None | None | I | None | 6.16922E-03 | 2.31752E-03 | None | 1.08189E-02 | 6.70002E-05 | None | 3.95448E-03 | 2.31252E-03 | 9.30972E-03 | 3.71445E-03 | 7.70044E-03 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.0945 | likely_benign | 0.1028 | benign | -0.386 | Destabilizing | None | N | 0.235 | neutral | N | 0.416136373 | None | None | I |
| V/C | 0.7251 | likely_pathogenic | 0.7634 | pathogenic | -0.872 | Destabilizing | 0.836 | D | 0.541 | neutral | None | None | None | None | I |
| V/D | 0.5123 | ambiguous | 0.5881 | pathogenic | -0.31 | Destabilizing | 0.836 | D | 0.587 | neutral | None | None | None | None | I |
| V/E | 0.3809 | ambiguous | 0.4439 | ambiguous | -0.424 | Destabilizing | 0.351 | N | 0.601 | neutral | N | 0.498101609 | None | None | I |
| V/F | 0.1711 | likely_benign | 0.1891 | benign | -0.755 | Destabilizing | 0.716 | D | 0.506 | neutral | None | None | None | None | I |
| V/G | 0.2167 | likely_benign | 0.2371 | benign | -0.432 | Destabilizing | 0.213 | N | 0.589 | neutral | N | 0.514647142 | None | None | I |
| V/H | 0.5517 | ambiguous | 0.6132 | pathogenic | -0.02 | Destabilizing | 0.983 | D | 0.606 | neutral | None | None | None | None | I |
| V/I | 0.0948 | likely_benign | 0.0981 | benign | -0.402 | Destabilizing | 0.01 | N | 0.213 | neutral | None | None | None | None | I |
| V/K | 0.3861 | ambiguous | 0.4391 | ambiguous | -0.397 | Destabilizing | 0.418 | N | 0.598 | neutral | None | None | None | None | I |
| V/L | 0.2311 | likely_benign | 0.2548 | benign | -0.402 | Destabilizing | 0.041 | N | 0.269 | neutral | N | 0.440437385 | None | None | I |
| V/M | 0.1528 | likely_benign | 0.1677 | benign | -0.615 | Destabilizing | 0.086 | N | 0.27 | neutral | N | 0.498101609 | None | None | I |
| V/N | 0.352 | ambiguous | 0.4137 | ambiguous | -0.23 | Destabilizing | 0.836 | D | 0.61 | neutral | None | None | None | None | I |
| V/P | 0.8438 | likely_pathogenic | 0.8658 | pathogenic | -0.37 | Destabilizing | 0.836 | D | 0.586 | neutral | None | None | None | None | I |
| V/Q | 0.329 | likely_benign | 0.3729 | ambiguous | -0.43 | Destabilizing | 0.836 | D | 0.611 | neutral | None | None | None | None | I |
| V/R | 0.2867 | likely_benign | 0.3262 | benign | 0.04 | Stabilizing | 0.716 | D | 0.601 | neutral | None | None | None | None | I |
| V/S | 0.1769 | likely_benign | 0.2025 | benign | -0.554 | Destabilizing | 0.129 | N | 0.583 | neutral | None | None | None | None | I |
| V/T | 0.1648 | likely_benign | 0.1705 | benign | -0.578 | Destabilizing | 0.228 | N | 0.382 | neutral | None | None | None | None | I |
| V/W | 0.7892 | likely_pathogenic | 0.8238 | pathogenic | -0.794 | Destabilizing | 0.983 | D | 0.615 | neutral | None | None | None | None | I |
| V/Y | 0.5667 | likely_pathogenic | 0.6154 | pathogenic | -0.538 | Destabilizing | 0.836 | D | 0.53 | neutral | None | None | None | None | I |
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.