Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34964 | 105115;105116;105117 | chr2:178531725;178531724;178531723 | chr2:179396452;179396451;179396450 |
| N2AB | 33323 | 100192;100193;100194 | chr2:178531725;178531724;178531723 | chr2:179396452;179396451;179396450 |
| N2A | 32396 | 97411;97412;97413 | chr2:178531725;178531724;178531723 | chr2:179396452;179396451;179396450 |
| N2B | 25899 | 77920;77921;77922 | chr2:178531725;178531724;178531723 | chr2:179396452;179396451;179396450 |
| Novex-1 | 26024 | 78295;78296;78297 | chr2:178531725;178531724;178531723 | chr2:179396452;179396451;179396450 |
| Novex-2 | 26091 | 78496;78497;78498 | chr2:178531725;178531724;178531723 | chr2:179396452;179396451;179396450 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/K | None | None | 1.0 | N | 0.673 | 0.276 | 0.112648838833 | gnomAD-4.0.0 | 1.59088E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 0 |
| N/S | rs769356385  |
-1.017 | 0.999 | N | 0.538 | 0.37 | 0.254761474806 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| N/S | rs769356385 |
-1.017 | 0.999 | N | 0.538 | 0.37 | 0.254761474806 | gnomAD-4.0.0 | 2.05242E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.6982E-06 | 0 | 0 |
| N/Y | rs779363624 |
-0.293 | 1.0 | N | 0.782 | 0.582 | 0.698813973971 | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.66889E-04 | None | 0 | None | 0 | 0 | 0 |
| N/Y | rs779363624 |
-0.293 | 1.0 | N | 0.782 | 0.582 | 0.698813973971 | gnomAD-4.0.0 | 7.95444E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.38619E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.8725 | likely_pathogenic | 0.894 | pathogenic | -1.096 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| N/C | 0.8393 | likely_pathogenic | 0.8889 | pathogenic | -0.288 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| N/D | 0.8658 | likely_pathogenic | 0.8951 | pathogenic | -0.837 | Destabilizing | 0.999 | D | 0.528 | neutral | N | 0.514356353 | None | None | N |
| N/E | 0.9745 | likely_pathogenic | 0.9807 | pathogenic | -0.695 | Destabilizing | 0.999 | D | 0.654 | neutral | None | None | None | None | N |
| N/F | 0.9688 | likely_pathogenic | 0.9712 | pathogenic | -0.717 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| N/G | 0.8931 | likely_pathogenic | 0.9075 | pathogenic | -1.46 | Destabilizing | 0.999 | D | 0.549 | neutral | None | None | None | None | N |
| N/H | 0.5522 | ambiguous | 0.5694 | pathogenic | -0.989 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | D | 0.526093499 | None | None | N |
| N/I | 0.9008 | likely_pathogenic | 0.9167 | pathogenic | -0.152 | Destabilizing | 1.0 | D | 0.791 | deleterious | N | 0.467181269 | None | None | N |
| N/K | 0.9671 | likely_pathogenic | 0.9734 | pathogenic | -0.255 | Destabilizing | 1.0 | D | 0.673 | neutral | N | 0.444013621 | None | None | N |
| N/L | 0.7999 | likely_pathogenic | 0.8223 | pathogenic | -0.152 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| N/M | 0.9042 | likely_pathogenic | 0.9088 | pathogenic | 0.215 | Stabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| N/P | 0.9791 | likely_pathogenic | 0.9784 | pathogenic | -0.438 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| N/Q | 0.9201 | likely_pathogenic | 0.9302 | pathogenic | -0.912 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| N/R | 0.9442 | likely_pathogenic | 0.9536 | pathogenic | -0.268 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| N/S | 0.3589 | ambiguous | 0.3899 | ambiguous | -1.068 | Destabilizing | 0.999 | D | 0.538 | neutral | N | 0.436338287 | None | None | N |
| N/T | 0.726 | likely_pathogenic | 0.7418 | pathogenic | -0.728 | Destabilizing | 0.999 | D | 0.643 | neutral | N | 0.456692129 | None | None | N |
| N/V | 0.8781 | likely_pathogenic | 0.9003 | pathogenic | -0.438 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| N/W | 0.9856 | likely_pathogenic | 0.9879 | pathogenic | -0.414 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| N/Y | 0.771 | likely_pathogenic | 0.7776 | pathogenic | -0.197 | Destabilizing | 1.0 | D | 0.782 | deleterious | N | 0.496984101 | 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.