Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24017 | 72274;72275;72276 | chr2:178574083;178574082;178574081 | chr2:179438810;179438809;179438808 |
| N2AB | 22376 | 67351;67352;67353 | chr2:178574083;178574082;178574081 | chr2:179438810;179438809;179438808 |
| N2A | 21449 | 64570;64571;64572 | chr2:178574083;178574082;178574081 | chr2:179438810;179438809;179438808 |
| N2B | 14952 | 45079;45080;45081 | chr2:178574083;178574082;178574081 | chr2:179438810;179438809;179438808 |
| Novex-1 | 15077 | 45454;45455;45456 | chr2:178574083;178574082;178574081 | chr2:179438810;179438809;179438808 |
| Novex-2 | 15144 | 45655;45656;45657 | chr2:178574083;178574082;178574081 | chr2:179438810;179438809;179438808 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs1459331119  |
-0.192 | 0.001 | N | 0.252 | 0.2 | 0.12205267543 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.5189E-04 | None | 0 | None | 0 | 0 | 0 |
| A/P | rs1459331119 |
-0.192 | 0.001 | N | 0.252 | 0.2 | 0.12205267543 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93798E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/P | rs1459331119 |
-0.192 | 0.001 | N | 0.252 | 0.2 | 0.12205267543 | gnomAD-4.0.0 | 6.57618E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.93798E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4895 | ambiguous | 0.4547 | ambiguous | -0.762 | Destabilizing | 0.984 | D | 0.481 | neutral | None | None | None | None | N |
| A/D | 0.3003 | likely_benign | 0.3152 | benign | -0.232 | Destabilizing | 0.664 | D | 0.639 | neutral | N | 0.456390131 | None | None | N |
| A/E | 0.2311 | likely_benign | 0.2465 | benign | -0.367 | Destabilizing | 0.428 | N | 0.499 | neutral | None | None | None | None | N |
| A/F | 0.3404 | ambiguous | 0.3375 | benign | -0.775 | Destabilizing | 0.842 | D | 0.659 | prob.neutral | None | None | None | None | N |
| A/G | 0.1647 | likely_benign | 0.1619 | benign | -0.357 | Destabilizing | 0.361 | N | 0.457 | neutral | N | 0.514987419 | None | None | N |
| A/H | 0.4578 | ambiguous | 0.4387 | ambiguous | -0.375 | Destabilizing | 0.984 | D | 0.643 | neutral | None | None | None | None | N |
| A/I | 0.1828 | likely_benign | 0.1737 | benign | -0.24 | Destabilizing | 0.272 | N | 0.507 | neutral | None | None | None | None | N |
| A/K | 0.3469 | ambiguous | 0.3512 | ambiguous | -0.612 | Destabilizing | 0.428 | N | 0.501 | neutral | None | None | None | None | N |
| A/L | 0.1743 | likely_benign | 0.1663 | benign | -0.24 | Destabilizing | 0.272 | N | 0.533 | neutral | None | None | None | None | N |
| A/M | 0.2183 | likely_benign | 0.2089 | benign | -0.359 | Destabilizing | 0.842 | D | 0.517 | neutral | None | None | None | None | N |
| A/N | 0.2388 | likely_benign | 0.228 | benign | -0.302 | Destabilizing | 0.724 | D | 0.638 | neutral | None | None | None | None | N |
| A/P | 0.1108 | likely_benign | 0.0962 | benign | -0.215 | Destabilizing | 0.001 | N | 0.252 | neutral | N | 0.398355036 | None | None | N |
| A/Q | 0.3157 | likely_benign | 0.2998 | benign | -0.537 | Destabilizing | 0.842 | D | 0.532 | neutral | None | None | None | None | N |
| A/R | 0.3187 | likely_benign | 0.3109 | benign | -0.201 | Destabilizing | 0.724 | D | 0.533 | neutral | None | None | None | None | N |
| A/S | 0.1031 | likely_benign | 0.0995 | benign | -0.563 | Destabilizing | 0.22 | N | 0.476 | neutral | N | 0.44199117 | None | None | N |
| A/T | 0.0883 | likely_benign | 0.0878 | benign | -0.606 | Destabilizing | 0.002 | N | 0.355 | neutral | N | 0.447839707 | None | None | N |
| A/V | 0.1099 | likely_benign | 0.1049 | benign | -0.215 | Destabilizing | 0.008 | N | 0.326 | neutral | N | 0.449645074 | None | None | N |
| A/W | 0.7458 | likely_pathogenic | 0.7427 | pathogenic | -0.941 | Destabilizing | 0.984 | D | 0.743 | deleterious | None | None | None | None | N |
| A/Y | 0.4504 | ambiguous | 0.4301 | ambiguous | -0.575 | Destabilizing | 0.942 | D | 0.646 | 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.