Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5029 | 15310;15311;15312 | chr2:178734839;178734838;178734837 | chr2:179599566;179599565;179599564 |
| N2AB | 4712 | 14359;14360;14361 | chr2:178734839;178734838;178734837 | chr2:179599566;179599565;179599564 |
| N2A | 3785 | 11578;11579;11580 | chr2:178734839;178734838;178734837 | chr2:179599566;179599565;179599564 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/L | rs200792058  |
None | 0.221 | N | 0.362 | 0.274 | 0.596401026678 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/L | rs200792058 |
None | 0.221 | N | 0.362 | 0.274 | 0.596401026678 | gnomAD-4.0.0 | 6.57333E-06 | None | None | None | None | N | None | 2.41406E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/Q | rs200792058 |
-1.07 | 0.017 | N | 0.095 | 0.085 | None | gnomAD-2.1.1 | 1.75025E-04 | None | None | None | None | N | None | 1.23987E-04 | 0 | None | 0 | 3.07977E-04 | None | 8.17314E-04 | None | 0 | 1.17263E-04 | 0 |
| R/Q | rs200792058 |
-1.07 | 0.017 | N | 0.095 | 0.085 | None | gnomAD-3.1.2 | 6.57E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.8506E-04 | None | 0 | 0 | 1.02911E-04 | 2.07469E-04 | 0 |
| R/Q | rs200792058 |
-1.07 | 0.017 | N | 0.095 | 0.085 | None | gnomAD-4.0.0 | 1.96444E-04 | None | None | None | None | N | None | 3.99936E-05 | 0 | None | 0 | 3.12207E-04 | None | 0 | 0 | 1.81396E-04 | 8.6756E-04 | 1.12047E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.3117 | likely_benign | 0.3233 | benign | -0.951 | Destabilizing | 0.129 | N | 0.357 | neutral | None | None | None | None | N |
| R/C | 0.1737 | likely_benign | 0.1877 | benign | -0.871 | Destabilizing | 0.983 | D | 0.44 | neutral | None | None | None | None | N |
| R/D | 0.5336 | ambiguous | 0.5333 | ambiguous | 0.01 | Stabilizing | 0.418 | N | 0.373 | neutral | None | None | None | None | N |
| R/E | 0.2682 | likely_benign | 0.2718 | benign | 0.141 | Stabilizing | 0.129 | N | 0.248 | neutral | None | None | None | None | N |
| R/F | 0.4848 | ambiguous | 0.513 | ambiguous | -0.798 | Destabilizing | 0.836 | D | 0.441 | neutral | None | None | None | None | N |
| R/G | 0.203 | likely_benign | 0.2126 | benign | -1.262 | Destabilizing | 0.579 | D | 0.367 | neutral | N | 0.514592074 | None | None | N |
| R/H | 0.0777 | likely_benign | 0.0828 | benign | -1.56 | Destabilizing | 0.836 | D | 0.369 | neutral | None | None | None | None | N |
| R/I | 0.2501 | likely_benign | 0.2558 | benign | -0.115 | Destabilizing | 0.716 | D | 0.442 | neutral | None | None | None | None | N |
| R/K | 0.0862 | likely_benign | 0.0858 | benign | -0.799 | Destabilizing | 0.004 | N | 0.099 | neutral | None | None | None | None | N |
| R/L | 0.2359 | likely_benign | 0.2555 | benign | -0.115 | Destabilizing | 0.221 | N | 0.362 | neutral | N | 0.510730396 | None | None | N |
| R/M | 0.2392 | likely_benign | 0.2464 | benign | -0.437 | Destabilizing | 0.836 | D | 0.404 | neutral | None | None | None | None | N |
| R/N | 0.392 | ambiguous | 0.3927 | ambiguous | -0.284 | Destabilizing | 0.418 | N | 0.179 | neutral | None | None | None | None | N |
| R/P | 0.8722 | likely_pathogenic | 0.8724 | pathogenic | -0.373 | Destabilizing | 0.736 | D | 0.397 | neutral | D | 0.606533549 | None | None | N |
| R/Q | 0.084 | likely_benign | 0.0891 | benign | -0.457 | Destabilizing | 0.017 | N | 0.095 | neutral | N | 0.468398028 | None | None | N |
| R/S | 0.3243 | likely_benign | 0.3271 | benign | -1.133 | Destabilizing | 0.129 | N | 0.325 | neutral | None | None | None | None | N |
| R/T | 0.1728 | likely_benign | 0.1743 | benign | -0.811 | Destabilizing | 0.004 | N | 0.169 | neutral | None | None | None | None | N |
| R/V | 0.321 | likely_benign | 0.3332 | benign | -0.373 | Destabilizing | 0.264 | N | 0.405 | neutral | None | None | None | None | N |
| R/W | 0.1765 | likely_benign | 0.1968 | benign | -0.424 | Destabilizing | 0.983 | D | 0.462 | neutral | None | None | None | None | N |
| R/Y | 0.3432 | ambiguous | 0.3726 | ambiguous | -0.142 | Destabilizing | 0.836 | D | 0.415 | 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.