Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25332 | 76219;76220;76221 | chr2:178570138;178570137;178570136 | chr2:179434865;179434864;179434863 |
| N2AB | 23691 | 71296;71297;71298 | chr2:178570138;178570137;178570136 | chr2:179434865;179434864;179434863 |
| N2A | 22764 | 68515;68516;68517 | chr2:178570138;178570137;178570136 | chr2:179434865;179434864;179434863 |
| N2B | 16267 | 49024;49025;49026 | chr2:178570138;178570137;178570136 | chr2:179434865;179434864;179434863 |
| Novex-1 | 16392 | 49399;49400;49401 | chr2:178570138;178570137;178570136 | chr2:179434865;179434864;179434863 |
| Novex-2 | 16459 | 49600;49601;49602 | chr2:178570138;178570137;178570136 | chr2:179434865;179434864;179434863 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs779031787  |
-0.124 | 1.0 | D | 0.733 | 0.557 | 0.397540356873 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| G/A | rs779031787 |
-0.124 | 1.0 | D | 0.733 | 0.557 | 0.397540356873 | gnomAD-4.0.0 | 1.36862E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79914E-06 | 0 | 0 |
| G/D | rs779031787 |
None | 1.0 | D | 0.823 | 0.676 | 0.428976297845 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| G/D | rs779031787 |
None | 1.0 | D | 0.823 | 0.676 | 0.428976297845 | gnomAD-4.0.0 | 1.36862E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79914E-06 | 0 | 0 |
| G/S | rs750686328 |
-0.295 | 1.0 | N | 0.798 | 0.525 | 0.386721274199 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/S | rs750686328 |
-0.295 | 1.0 | N | 0.798 | 0.525 | 0.386721274199 | gnomAD-4.0.0 | 2.05293E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79914E-06 | 1.1595E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9064 | likely_pathogenic | 0.8875 | pathogenic | -0.197 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | D | 0.525668323 | None | None | I |
| G/C | 0.9679 | likely_pathogenic | 0.9562 | pathogenic | -0.724 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.541912927 | None | None | I |
| G/D | 0.9912 | likely_pathogenic | 0.9844 | pathogenic | -0.719 | Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.524907854 | None | None | I |
| G/E | 0.994 | likely_pathogenic | 0.99 | pathogenic | -0.897 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | I |
| G/F | 0.9958 | likely_pathogenic | 0.9945 | pathogenic | -1.122 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/H | 0.992 | likely_pathogenic | 0.9883 | pathogenic | -0.481 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/I | 0.9971 | likely_pathogenic | 0.9954 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/K | 0.9915 | likely_pathogenic | 0.9885 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/L | 0.9952 | likely_pathogenic | 0.993 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/M | 0.9971 | likely_pathogenic | 0.9959 | pathogenic | -0.275 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| G/N | 0.981 | likely_pathogenic | 0.969 | pathogenic | -0.237 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/P | 0.9995 | likely_pathogenic | 0.9992 | pathogenic | -0.309 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | I |
| G/Q | 0.9902 | likely_pathogenic | 0.9856 | pathogenic | -0.586 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/R | 0.9733 | likely_pathogenic | 0.9639 | pathogenic | -0.127 | Destabilizing | 1.0 | D | 0.855 | deleterious | N | 0.504094574 | None | None | I |
| G/S | 0.8648 | likely_pathogenic | 0.8217 | pathogenic | -0.327 | Destabilizing | 1.0 | D | 0.798 | deleterious | N | 0.521527266 | None | None | I |
| G/T | 0.9875 | likely_pathogenic | 0.9823 | pathogenic | -0.447 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/V | 0.9933 | likely_pathogenic | 0.9901 | pathogenic | -0.309 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.530303132 | None | None | I |
| G/W | 0.992 | likely_pathogenic | 0.9874 | pathogenic | -1.257 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/Y | 0.9926 | likely_pathogenic | 0.9897 | pathogenic | -0.884 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
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.