Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7734 | 23425;23426;23427 | chr2:178720562;178720561;178720560 | chr2:179585289;179585288;179585287 |
| N2AB | 7417 | 22474;22475;22476 | chr2:178720562;178720561;178720560 | chr2:179585289;179585288;179585287 |
| N2A | 6490 | 19693;19694;19695 | chr2:178720562;178720561;178720560 | chr2:179585289;179585288;179585287 |
| 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/G | rs778239287  |
-1.999 | 0.213 | N | 0.569 | 0.312 | 0.783236671049 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/G | rs778239287 |
-1.999 | 0.213 | N | 0.569 | 0.312 | 0.783236671049 | gnomAD-4.0.0 | 1.59215E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02663E-05 |
| V/I | rs749838164 |
-0.43 | 0.002 | N | 0.192 | 0.093 | 0.52991035303 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| V/I | rs749838164 |
-0.43 | 0.002 | N | 0.192 | 0.093 | 0.52991035303 | gnomAD-4.0.0 | 4.10626E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49814E-06 | 0 | 1.65728E-05 |
| V/L | None | None | 0.017 | N | 0.341 | 0.134 | 0.445210270852 | gnomAD-4.0.0 | 1.36875E-06 | None | None | None | None | N | None | 5.9805E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1393 | likely_benign | 0.1439 | benign | -1.513 | Destabilizing | None | N | 0.209 | neutral | N | 0.443264259 | None | None | N |
| V/C | 0.7181 | likely_pathogenic | 0.7166 | pathogenic | -0.779 | Destabilizing | 0.836 | D | 0.585 | neutral | None | None | None | None | N |
| V/D | 0.3729 | ambiguous | 0.3942 | ambiguous | -1.64 | Destabilizing | 0.593 | D | 0.641 | neutral | None | None | None | None | N |
| V/E | 0.3197 | likely_benign | 0.3433 | ambiguous | -1.637 | Destabilizing | 0.351 | N | 0.581 | neutral | N | 0.425542503 | None | None | N |
| V/F | 0.1325 | likely_benign | 0.1269 | benign | -1.148 | Destabilizing | 0.716 | D | 0.61 | neutral | None | None | None | None | N |
| V/G | 0.204 | likely_benign | 0.2141 | benign | -1.833 | Destabilizing | 0.213 | N | 0.569 | neutral | N | 0.496560026 | None | None | N |
| V/H | 0.4761 | ambiguous | 0.4799 | ambiguous | -1.476 | Destabilizing | 0.983 | D | 0.634 | neutral | None | None | None | None | N |
| V/I | 0.0748 | likely_benign | 0.0719 | benign | -0.722 | Destabilizing | 0.002 | N | 0.192 | neutral | N | 0.439263949 | None | None | N |
| V/K | 0.4477 | ambiguous | 0.4696 | ambiguous | -1.375 | Destabilizing | 0.418 | N | 0.592 | neutral | None | None | None | None | N |
| V/L | 0.1338 | likely_benign | 0.1307 | benign | -0.722 | Destabilizing | 0.017 | N | 0.341 | neutral | N | 0.440706743 | None | None | N |
| V/M | 0.1172 | likely_benign | 0.1123 | benign | -0.437 | Destabilizing | 0.716 | D | 0.572 | neutral | None | None | None | None | N |
| V/N | 0.1991 | likely_benign | 0.1989 | benign | -1.087 | Destabilizing | 0.836 | D | 0.649 | neutral | None | None | None | None | N |
| V/P | 0.9421 | likely_pathogenic | 0.9469 | pathogenic | -0.953 | Destabilizing | 0.836 | D | 0.627 | neutral | None | None | None | None | N |
| V/Q | 0.2842 | likely_benign | 0.2947 | benign | -1.261 | Destabilizing | 0.836 | D | 0.627 | neutral | None | None | None | None | N |
| V/R | 0.4067 | ambiguous | 0.4321 | ambiguous | -0.82 | Destabilizing | 0.836 | D | 0.648 | neutral | None | None | None | None | N |
| V/S | 0.1289 | likely_benign | 0.1333 | benign | -1.519 | Destabilizing | 0.129 | N | 0.541 | neutral | None | None | None | None | N |
| V/T | 0.1216 | likely_benign | 0.1247 | benign | -1.419 | Destabilizing | 0.004 | N | 0.21 | neutral | None | None | None | None | N |
| V/W | 0.7723 | likely_pathogenic | 0.7684 | pathogenic | -1.401 | Destabilizing | 0.983 | D | 0.668 | neutral | None | None | None | None | N |
| V/Y | 0.4647 | ambiguous | 0.4581 | ambiguous | -1.128 | Destabilizing | 0.836 | D | 0.604 | 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.