Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5319 | 16180;16181;16182 | chr2:178733338;178733337;178733336 | chr2:179598065;179598064;179598063 |
| N2AB | 5002 | 15229;15230;15231 | chr2:178733338;178733337;178733336 | chr2:179598065;179598064;179598063 |
| N2A | 4075 | 12448;12449;12450 | chr2:178733338;178733337;178733336 | chr2:179598065;179598064;179598063 |
| 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/E | None | None | 0.767 | N | 0.361 | 0.212 | 0.292423486923 | gnomAD-4.0.0 | 1.59131E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77423E-05 | None | 0 | 0 | 0 | 0 | 0 |
| K/R | rs779733584  |
None | 0.996 | N | 0.435 | 0.316 | 0.461671691612 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| K/R | rs779733584 |
None | 0.996 | N | 0.435 | 0.316 | 0.461671691612 | gnomAD-4.0.0 | 1.85907E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54282E-06 | 0 | 0 |
| K/T | rs779733584 |
-1.198 | 0.999 | N | 0.698 | 0.469 | 0.420939154896 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 8.7E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/T | rs779733584 |
-1.198 | 0.999 | N | 0.698 | 0.469 | 0.420939154896 | gnomAD-4.0.0 | 2.05266E-06 | None | None | None | None | N | None | 0 | 6.70931E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.7505 | likely_pathogenic | 0.7734 | pathogenic | -1.101 | Destabilizing | 0.997 | D | 0.516 | neutral | None | None | None | None | N |
| K/C | 0.8622 | likely_pathogenic | 0.8751 | pathogenic | -1.183 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| K/D | 0.9251 | likely_pathogenic | 0.9351 | pathogenic | -0.763 | Destabilizing | 0.994 | D | 0.597 | neutral | None | None | None | None | N |
| K/E | 0.6388 | likely_pathogenic | 0.6862 | pathogenic | -0.542 | Destabilizing | 0.767 | D | 0.361 | neutral | N | 0.504602836 | None | None | N |
| K/F | 0.9322 | likely_pathogenic | 0.9378 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| K/G | 0.8854 | likely_pathogenic | 0.8968 | pathogenic | -1.558 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| K/H | 0.4472 | ambiguous | 0.4696 | ambiguous | -1.665 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| K/I | 0.5475 | ambiguous | 0.5739 | pathogenic | 0.148 | Stabilizing | 1.0 | D | 0.762 | deleterious | N | 0.502448275 | None | None | N |
| K/L | 0.6385 | likely_pathogenic | 0.6629 | pathogenic | 0.148 | Stabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| K/M | 0.4852 | ambiguous | 0.5159 | ambiguous | -0.119 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| K/N | 0.8038 | likely_pathogenic | 0.8198 | pathogenic | -1.145 | Destabilizing | 0.999 | D | 0.609 | neutral | D | 0.553797386 | None | None | N |
| K/P | 0.9832 | likely_pathogenic | 0.9858 | pathogenic | -0.242 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| K/Q | 0.2833 | likely_benign | 0.2987 | benign | -1.013 | Destabilizing | 0.999 | D | 0.595 | neutral | N | 0.506089358 | None | None | N |
| K/R | 0.0998 | likely_benign | 0.1035 | benign | -0.87 | Destabilizing | 0.996 | D | 0.435 | neutral | N | 0.498812415 | None | None | N |
| K/S | 0.7884 | likely_pathogenic | 0.8064 | pathogenic | -1.844 | Destabilizing | 0.997 | D | 0.471 | neutral | None | None | None | None | N |
| K/T | 0.3776 | ambiguous | 0.468 | ambiguous | -1.375 | Destabilizing | 0.999 | D | 0.698 | prob.neutral | N | 0.500392029 | None | None | N |
| K/V | 0.5559 | ambiguous | 0.5797 | pathogenic | -0.242 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| K/W | 0.9001 | likely_pathogenic | 0.915 | pathogenic | -0.299 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| K/Y | 0.817 | likely_pathogenic | 0.832 | pathogenic | 0.003 | Stabilizing | 1.0 | D | 0.746 | 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.