Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23716 | 71371;71372;71373 | chr2:178574986;178574985;178574984 | chr2:179439713;179439712;179439711 |
| N2AB | 22075 | 66448;66449;66450 | chr2:178574986;178574985;178574984 | chr2:179439713;179439712;179439711 |
| N2A | 21148 | 63667;63668;63669 | chr2:178574986;178574985;178574984 | chr2:179439713;179439712;179439711 |
| N2B | 14651 | 44176;44177;44178 | chr2:178574986;178574985;178574984 | chr2:179439713;179439712;179439711 |
| Novex-1 | 14776 | 44551;44552;44553 | chr2:178574986;178574985;178574984 | chr2:179439713;179439712;179439711 |
| Novex-2 | 14843 | 44752;44753;44754 | chr2:178574986;178574985;178574984 | chr2:179439713;179439712;179439711 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs774327480  |
-0.714 | 0.684 | N | 0.493 | 0.248 | 0.307332253619 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.91E-06 | 0 |
| G/D | rs774327480 |
-0.714 | 0.684 | N | 0.493 | 0.248 | 0.307332253619 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07641E-04 | 0 |
| G/D | rs774327480 |
-0.714 | 0.684 | N | 0.493 | 0.248 | 0.307332253619 | gnomAD-4.0.0 | 5.57903E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.64582E-04 | 2.54323E-06 | 3.29475E-05 | 3.20369E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.0778 | likely_benign | 0.08 | benign | -0.225 | Destabilizing | 0.164 | N | 0.299 | neutral | N | 0.426121293 | None | None | I |
| G/C | 0.1254 | likely_benign | 0.127 | benign | -0.856 | Destabilizing | 0.994 | D | 0.601 | neutral | N | 0.453731969 | None | None | I |
| G/D | 0.1911 | likely_benign | 0.1912 | benign | -0.747 | Destabilizing | 0.684 | D | 0.493 | neutral | N | 0.420272756 | None | None | I |
| G/E | 0.143 | likely_benign | 0.1428 | benign | -0.917 | Destabilizing | 0.742 | D | 0.552 | neutral | None | None | None | None | I |
| G/F | 0.4764 | ambiguous | 0.4628 | ambiguous | -1.003 | Destabilizing | 0.91 | D | 0.63 | neutral | None | None | None | None | I |
| G/H | 0.2408 | likely_benign | 0.2349 | benign | -0.476 | Destabilizing | 0.996 | D | 0.569 | neutral | None | None | None | None | I |
| G/I | 0.1917 | likely_benign | 0.1986 | benign | -0.425 | Destabilizing | 0.59 | D | 0.571 | neutral | None | None | None | None | I |
| G/K | 0.2297 | likely_benign | 0.2215 | benign | -0.851 | Destabilizing | 0.742 | D | 0.56 | neutral | None | None | None | None | I |
| G/L | 0.276 | likely_benign | 0.2892 | benign | -0.425 | Destabilizing | 0.373 | N | 0.539 | neutral | None | None | None | None | I |
| G/M | 0.2718 | likely_benign | 0.2794 | benign | -0.515 | Destabilizing | 0.953 | D | 0.611 | neutral | None | None | None | None | I |
| G/N | 0.1865 | likely_benign | 0.2004 | benign | -0.469 | Destabilizing | 0.742 | D | 0.425 | neutral | None | None | None | None | I |
| G/P | 0.7647 | likely_pathogenic | 0.8035 | pathogenic | -0.328 | Destabilizing | 0.953 | D | 0.581 | neutral | None | None | None | None | I |
| G/Q | 0.193 | likely_benign | 0.198 | benign | -0.771 | Destabilizing | 0.953 | D | 0.586 | neutral | None | None | None | None | I |
| G/R | 0.1797 | likely_benign | 0.1656 | benign | -0.382 | Destabilizing | 0.884 | D | 0.576 | neutral | N | 0.398820049 | None | None | I |
| G/S | 0.0691 | likely_benign | 0.0689 | benign | -0.557 | Destabilizing | 0.028 | N | 0.139 | neutral | N | 0.314932016 | None | None | I |
| G/T | 0.0728 | likely_benign | 0.0731 | benign | -0.667 | Destabilizing | 0.005 | N | 0.295 | neutral | None | None | None | None | I |
| G/V | 0.1253 | likely_benign | 0.1303 | benign | -0.328 | Destabilizing | 0.007 | N | 0.397 | neutral | N | 0.403380506 | None | None | I |
| G/W | 0.3676 | ambiguous | 0.3416 | ambiguous | -1.155 | Destabilizing | 0.996 | D | 0.591 | neutral | None | None | None | None | I |
| G/Y | 0.3533 | ambiguous | 0.3425 | ambiguous | -0.818 | Destabilizing | 0.953 | D | 0.637 | 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.