Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8522 | 25789;25790;25791 | chr2:178717170;178717169;178717168 | chr2:179581897;179581896;179581895 |
| N2AB | 8205 | 24838;24839;24840 | chr2:178717170;178717169;178717168 | chr2:179581897;179581896;179581895 |
| N2A | 7278 | 22057;22058;22059 | chr2:178717170;178717169;178717168 | chr2:179581897;179581896;179581895 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | rs199619070  |
-0.12 | 0.999 | D | 0.735 | 0.596 | None | gnomAD-2.1.1 | 9.64E-05 | None | None | None | None | N | None | 0 | 5.66E-05 | None | 0 | 0 | None | 0 | None | 8E-05 | 1.6406E-04 | 2.81452E-04 |
| D/N | rs199619070 |
-0.12 | 0.999 | D | 0.735 | 0.596 | None | gnomAD-3.1.2 | 1.31423E-04 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 9.41E-05 | 0 | 2.49919E-04 | 0 | 0 |
| D/N | rs199619070 |
-0.12 | 0.999 | D | 0.735 | 0.596 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| D/N | rs199619070 |
-0.12 | 0.999 | D | 0.735 | 0.596 | None | gnomAD-4.0.0 | 1.61129E-04 | None | None | None | None | N | None | 2.66567E-05 | 0 | None | 0 | 0 | None | 4.68735E-05 | 0 | 2.08535E-04 | 1.09808E-05 | 1.28098E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9748 | likely_pathogenic | 0.978 | pathogenic | 0.358 | Stabilizing | 1.0 | D | 0.842 | deleterious | D | 0.628085294 | None | None | N |
| D/C | 0.9935 | likely_pathogenic | 0.9948 | pathogenic | 0.33 | Stabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| D/E | 0.8948 | likely_pathogenic | 0.9054 | pathogenic | -0.471 | Destabilizing | 0.941 | D | 0.644 | neutral | D | 0.590424618 | None | None | N |
| D/F | 0.9937 | likely_pathogenic | 0.9942 | pathogenic | 1.122 | Stabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| D/G | 0.9793 | likely_pathogenic | 0.9834 | pathogenic | -0.086 | Destabilizing | 0.998 | D | 0.772 | deleterious | D | 0.665665607 | None | None | N |
| D/H | 0.966 | likely_pathogenic | 0.9667 | pathogenic | 0.902 | Stabilizing | 0.954 | D | 0.567 | neutral | D | 0.586002771 | None | None | N |
| D/I | 0.9921 | likely_pathogenic | 0.9928 | pathogenic | 1.546 | Stabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| D/K | 0.9926 | likely_pathogenic | 0.9924 | pathogenic | 0.5 | Stabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| D/L | 0.9895 | likely_pathogenic | 0.9907 | pathogenic | 1.546 | Stabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| D/M | 0.9958 | likely_pathogenic | 0.9961 | pathogenic | 1.806 | Stabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| D/N | 0.8731 | likely_pathogenic | 0.8921 | pathogenic | -0.42 | Destabilizing | 0.999 | D | 0.735 | prob.delet. | D | 0.612773145 | None | None | N |
| D/P | 0.9984 | likely_pathogenic | 0.9983 | pathogenic | 1.18 | Stabilizing | 0.999 | D | 0.829 | deleterious | None | None | None | None | N |
| D/Q | 0.9885 | likely_pathogenic | 0.9876 | pathogenic | -0.113 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| D/R | 0.9941 | likely_pathogenic | 0.9939 | pathogenic | 0.574 | Stabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| D/S | 0.9528 | likely_pathogenic | 0.9594 | pathogenic | -0.636 | Destabilizing | 0.999 | D | 0.721 | prob.delet. | None | None | None | None | N |
| D/T | 0.9885 | likely_pathogenic | 0.9896 | pathogenic | -0.22 | Destabilizing | 0.999 | D | 0.841 | deleterious | None | None | None | None | N |
| D/V | 0.9795 | likely_pathogenic | 0.982 | pathogenic | 1.18 | Stabilizing | 1.0 | D | 0.862 | deleterious | D | 0.64981769 | None | None | N |
| D/W | 0.9987 | likely_pathogenic | 0.9988 | pathogenic | 1.27 | Stabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| D/Y | 0.9667 | likely_pathogenic | 0.9695 | pathogenic | 1.439 | Stabilizing | 1.0 | D | 0.847 | deleterious | D | 0.633596524 | 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.