Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3071 | 9436;9437;9438 | chr2:178768108;178768107;178768106 | chr2:179632835;179632834;179632833 |
| N2AB | 3071 | 9436;9437;9438 | chr2:178768108;178768107;178768106 | chr2:179632835;179632834;179632833 |
| N2A | 3071 | 9436;9437;9438 | chr2:178768108;178768107;178768106 | chr2:179632835;179632834;179632833 |
| N2B | 3025 | 9298;9299;9300 | chr2:178768108;178768107;178768106 | chr2:179632835;179632834;179632833 |
| Novex-1 | 3025 | 9298;9299;9300 | chr2:178768108;178768107;178768106 | chr2:179632835;179632834;179632833 |
| Novex-2 | 3025 | 9298;9299;9300 | chr2:178768108;178768107;178768106 | chr2:179632835;179632834;179632833 |
| Novex-3 | 3071 | 9436;9437;9438 | chr2:178768108;178768107;178768106 | chr2:179632835;179632834;179632833 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/D | rs779657872  |
-1.033 | 0.999 | N | 0.435 | 0.306 | 0.132336055621 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| E/D | rs779657872 |
-1.033 | 0.999 | N | 0.435 | 0.306 | 0.132336055621 | 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 |
| E/D | rs779657872 |
-1.033 | 0.999 | N | 0.435 | 0.306 | 0.132336055621 | gnomAD-4.0.0 | 6.57125E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46985E-05 | 0 | 0 |
| E/G | rs755629588 |
-1.462 | 1.0 | D | 0.675 | 0.471 | 0.306695030598 | gnomAD-2.1.1 | 7.97E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.53E-05 | None | 0 | 0 | 0 |
| E/G | rs755629588 |
-1.462 | 1.0 | D | 0.675 | 0.471 | 0.306695030598 | gnomAD-4.0.0 | 1.23137E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.7337E-04 | 4.49648E-06 | 1.27524E-04 | 1.6559E-05 |
| E/Q | rs777427458 |
-1.035 | 1.0 | N | 0.627 | 0.298 | 0.178374595973 | gnomAD-2.1.1 | 1.59E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.30659E-04 | None | 0 | 0 | 0 |
| E/Q | rs777427458 |
-1.035 | 1.0 | N | 0.627 | 0.298 | 0.178374595973 | gnomAD-4.0.0 | 6.84095E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99294E-07 | 1.04338E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.9407 | likely_pathogenic | 0.9312 | pathogenic | -0.835 | Destabilizing | 0.999 | D | 0.607 | neutral | N | 0.36000397 | None | None | N |
| E/C | 0.9979 | likely_pathogenic | 0.9977 | pathogenic | -0.417 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| E/D | 0.9739 | likely_pathogenic | 0.9776 | pathogenic | -1.067 | Destabilizing | 0.999 | D | 0.435 | neutral | N | 0.389069281 | None | None | N |
| E/F | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| E/G | 0.9425 | likely_pathogenic | 0.9363 | pathogenic | -1.176 | Destabilizing | 1.0 | D | 0.675 | neutral | D | 0.546834732 | None | None | N |
| E/H | 0.996 | likely_pathogenic | 0.9966 | pathogenic | -0.654 | Destabilizing | 1.0 | D | 0.668 | neutral | None | None | None | None | N |
| E/I | 0.9942 | likely_pathogenic | 0.9935 | pathogenic | 0.087 | Stabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| E/K | 0.9763 | likely_pathogenic | 0.9754 | pathogenic | -0.548 | Destabilizing | 0.999 | D | 0.583 | neutral | N | 0.359414826 | None | None | N |
| E/L | 0.993 | likely_pathogenic | 0.9917 | pathogenic | 0.087 | Stabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| E/M | 0.9944 | likely_pathogenic | 0.9938 | pathogenic | 0.513 | Stabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| E/N | 0.9947 | likely_pathogenic | 0.9953 | pathogenic | -0.987 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| E/P | 0.9935 | likely_pathogenic | 0.9925 | pathogenic | -0.199 | Destabilizing | 1.0 | D | 0.674 | neutral | None | None | None | None | N |
| E/Q | 0.85 | likely_pathogenic | 0.8571 | pathogenic | -0.875 | Destabilizing | 1.0 | D | 0.627 | neutral | N | 0.386661141 | None | None | N |
| E/R | 0.9785 | likely_pathogenic | 0.9761 | pathogenic | -0.289 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| E/S | 0.9757 | likely_pathogenic | 0.9748 | pathogenic | -1.269 | Destabilizing | 0.999 | D | 0.652 | neutral | None | None | None | None | N |
| E/T | 0.99 | likely_pathogenic | 0.9901 | pathogenic | -0.99 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| E/V | 0.9795 | likely_pathogenic | 0.9765 | pathogenic | -0.199 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | N | 0.320845294 | None | None | N |
| E/W | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -0.193 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| E/Y | 0.9983 | likely_pathogenic | 0.9982 | pathogenic | -0.172 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | 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.