Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5799 | 17620;17621;17622 | chr2:178731371;178731370;178731369 | chr2:179596098;179596097;179596096 |
| N2AB | 5482 | 16669;16670;16671 | chr2:178731371;178731370;178731369 | chr2:179596098;179596097;179596096 |
| N2A | 4555 | 13888;13889;13890 | chr2:178731371;178731370;178731369 | chr2:179596098;179596097;179596096 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/R | rs572678771  |
-0.156 | 0.996 | N | 0.561 | 0.35 | 0.0884992946249 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56E-05 | None | 0 | None | 0 | 0 | 0 |
| K/R | rs572678771 |
-0.156 | 0.996 | N | 0.561 | 0.35 | 0.0884992946249 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92976E-04 | None | 0 | 0 | 0 | 0 | 0 |
| K/R | rs572678771 |
-0.156 | 0.996 | N | 0.561 | 0.35 | 0.0884992946249 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| K/R | rs572678771 |
-0.156 | 0.996 | N | 0.561 | 0.35 | 0.0884992946249 | gnomAD-4.0.0 | 2.47859E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 8.91583E-05 | None | 0 | 0 | 0 | 0 | 0 |
| K/T | None | None | 0.999 | N | 0.759 | 0.561 | 0.427829143865 | gnomAD-4.0.0 | 6.84205E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.6196 | likely_pathogenic | 0.5065 | ambiguous | -0.576 | Destabilizing | 0.997 | D | 0.635 | neutral | None | None | None | None | N |
| K/C | 0.8445 | likely_pathogenic | 0.7824 | pathogenic | -0.603 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| K/D | 0.7921 | likely_pathogenic | 0.7119 | pathogenic | 0.269 | Stabilizing | 0.994 | D | 0.695 | prob.neutral | None | None | None | None | N |
| K/E | 0.3565 | ambiguous | 0.2616 | benign | 0.37 | Stabilizing | 0.767 | D | 0.365 | neutral | N | 0.489364695 | None | None | N |
| K/F | 0.8196 | likely_pathogenic | 0.7436 | pathogenic | -0.345 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| K/G | 0.7619 | likely_pathogenic | 0.6797 | pathogenic | -0.919 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| K/H | 0.3964 | ambiguous | 0.3505 | ambiguous | -1.194 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| K/I | 0.3974 | ambiguous | 0.3051 | benign | 0.299 | Stabilizing | 1.0 | D | 0.771 | deleterious | N | 0.495696022 | None | None | N |
| K/L | 0.4585 | ambiguous | 0.3658 | ambiguous | 0.299 | Stabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| K/M | 0.3137 | likely_benign | 0.2397 | benign | 0.17 | Stabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| K/N | 0.571 | likely_pathogenic | 0.4644 | ambiguous | -0.236 | Destabilizing | 0.999 | D | 0.669 | neutral | N | 0.519399601 | None | None | N |
| K/P | 0.878 | likely_pathogenic | 0.8344 | pathogenic | 0.038 | Stabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| K/Q | 0.2058 | likely_benign | 0.1782 | benign | -0.339 | Destabilizing | 0.999 | D | 0.655 | neutral | D | 0.52480542 | None | None | N |
| K/R | 0.0918 | likely_benign | 0.0853 | benign | -0.393 | Destabilizing | 0.996 | D | 0.561 | neutral | N | 0.476936903 | None | None | N |
| K/S | 0.6498 | likely_pathogenic | 0.5435 | ambiguous | -0.997 | Destabilizing | 0.997 | D | 0.593 | neutral | None | None | None | None | N |
| K/T | 0.3136 | likely_benign | 0.2361 | benign | -0.688 | Destabilizing | 0.999 | D | 0.759 | deleterious | N | 0.504507506 | None | None | N |
| K/V | 0.4246 | ambiguous | 0.3374 | benign | 0.038 | Stabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| K/W | 0.8102 | likely_pathogenic | 0.7545 | pathogenic | -0.173 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| K/Y | 0.6696 | likely_pathogenic | 0.5942 | pathogenic | 0.125 | Stabilizing | 1.0 | D | 0.765 | deleterious | 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.