Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24798 | 74617;74618;74619 | chr2:178571740;178571739;178571738 | chr2:179436467;179436466;179436465 |
| N2AB | 23157 | 69694;69695;69696 | chr2:178571740;178571739;178571738 | chr2:179436467;179436466;179436465 |
| N2A | 22230 | 66913;66914;66915 | chr2:178571740;178571739;178571738 | chr2:179436467;179436466;179436465 |
| N2B | 15733 | 47422;47423;47424 | chr2:178571740;178571739;178571738 | chr2:179436467;179436466;179436465 |
| Novex-1 | 15858 | 47797;47798;47799 | chr2:178571740;178571739;178571738 | chr2:179436467;179436466;179436465 |
| Novex-2 | 15925 | 47998;47999;48000 | chr2:178571740;178571739;178571738 | chr2:179436467;179436466;179436465 |
| 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/T | rs771082157  |
-1.483 | None | N | 0.191 | 0.141 | 0.41883969893 | gnomAD-2.1.1 | 7.16E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.14E-05 | None | 3.27E-05 | None | 0 | 0 | 0 |
| I/T | rs771082157 |
-1.483 | None | N | 0.191 | 0.141 | 0.41883969893 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 1.93648E-04 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs771082157 |
-1.483 | None | N | 0.191 | 0.141 | 0.41883969893 | gnomAD-4.0.0 | 6.40827E-06 | None | None | None | None | I | None | 1.69165E-05 | 0 | None | 0 | 2.42695E-05 | None | 0 | 0 | 0 | 4.02199E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.0632 | likely_benign | 0.0596 | benign | -1.528 | Destabilizing | None | N | 0.207 | neutral | None | None | None | None | I |
| I/C | 0.2734 | likely_benign | 0.2645 | benign | -0.895 | Destabilizing | 0.018 | N | 0.416 | neutral | None | None | None | None | I |
| I/D | 0.1812 | likely_benign | 0.1804 | benign | -1.003 | Destabilizing | None | N | 0.323 | neutral | None | None | None | None | I |
| I/E | 0.1276 | likely_benign | 0.1301 | benign | -0.949 | Destabilizing | None | N | 0.326 | neutral | None | None | None | None | I |
| I/F | 0.1055 | likely_benign | 0.1031 | benign | -0.906 | Destabilizing | None | N | 0.19 | neutral | N | 0.453481253 | None | None | I |
| I/G | 0.1904 | likely_benign | 0.1819 | benign | -1.882 | Destabilizing | None | N | 0.325 | neutral | None | None | None | None | I |
| I/H | 0.1497 | likely_benign | 0.1448 | benign | -0.989 | Destabilizing | 0.002 | N | 0.422 | neutral | None | None | None | None | I |
| I/K | 0.0924 | likely_benign | 0.0943 | benign | -1.072 | Destabilizing | None | N | 0.324 | neutral | None | None | None | None | I |
| I/L | 0.0782 | likely_benign | 0.0762 | benign | -0.612 | Destabilizing | None | N | 0.1 | neutral | N | 0.461119301 | None | None | I |
| I/M | 0.06 | likely_benign | 0.0567 | benign | -0.535 | Destabilizing | 0.006 | N | 0.279 | neutral | N | 0.466583836 | None | None | I |
| I/N | 0.0714 | likely_benign | 0.0711 | benign | -1.047 | Destabilizing | None | N | 0.333 | neutral | N | 0.401782996 | None | None | I |
| I/P | 0.5298 | ambiguous | 0.4865 | ambiguous | -0.887 | Destabilizing | 0.001 | N | 0.373 | neutral | None | None | None | None | I |
| I/Q | 0.1083 | likely_benign | 0.1082 | benign | -1.134 | Destabilizing | 0.001 | N | 0.361 | neutral | None | None | None | None | I |
| I/R | 0.078 | likely_benign | 0.0781 | benign | -0.535 | Destabilizing | 0.001 | N | 0.361 | neutral | None | None | None | None | I |
| I/S | 0.0535 | likely_benign | 0.0536 | benign | -1.661 | Destabilizing | None | N | 0.249 | neutral | N | 0.338462236 | None | None | I |
| I/T | 0.0394 | likely_benign | 0.0379 | benign | -1.484 | Destabilizing | None | N | 0.191 | neutral | N | 0.32074048 | None | None | I |
| I/V | 0.0561 | likely_benign | 0.0551 | benign | -0.887 | Destabilizing | None | N | 0.1 | neutral | N | 0.42394778 | None | None | I |
| I/W | 0.4663 | ambiguous | 0.4732 | ambiguous | -1.04 | Destabilizing | 0.018 | N | 0.463 | neutral | None | None | None | None | I |
| I/Y | 0.2215 | likely_benign | 0.2212 | benign | -0.784 | Destabilizing | None | N | 0.195 | 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.