Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6453 | 19582;19583;19584 | chr2:178728569;178728568;178728567 | chr2:179593296;179593295;179593294 |
| N2AB | 6136 | 18631;18632;18633 | chr2:178728569;178728568;178728567 | chr2:179593296;179593295;179593294 |
| N2A | 5209 | 15850;15851;15852 | chr2:178728569;178728568;178728567 | chr2:179593296;179593295;179593294 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | None | None | 1.0 | D | 0.828 | 0.721 | 0.592397689306 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 1.26695E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs374964612  |
-0.217 | 1.0 | D | 0.837 | 0.66 | 0.625265535518 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| G/R | rs374964612 |
-0.217 | 1.0 | D | 0.837 | 0.66 | 0.625265535518 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/R | rs374964612 |
-0.217 | 1.0 | D | 0.837 | 0.66 | 0.625265535518 | gnomAD-4.0.0 | 2.47994E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39138E-06 | 0 | 0 |
| G/S | rs374964612 |
-0.409 | 1.0 | D | 0.832 | 0.639 | None | gnomAD-2.1.1 | 3.63E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.23E-05 | 3.33222E-04 |
| G/S | rs374964612 |
-0.409 | 1.0 | D | 0.832 | 0.639 | None | gnomAD-3.1.2 | 6.58E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.02947E-04 | 2.06954E-04 | 0 |
| G/S | rs374964612 |
-0.409 | 1.0 | D | 0.832 | 0.639 | None | gnomAD-4.0.0 | 7.56381E-05 | None | None | None | None | N | None | 2.67137E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 9.49587E-05 | 3.29547E-05 | 8.01102E-05 |
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 | 0.4123 | ambiguous | 0.4151 | ambiguous | -0.462 | Destabilizing | 1.0 | D | 0.746 | deleterious | D | 0.559843194 | None | None | N |
| G/C | 0.7605 | likely_pathogenic | 0.769 | pathogenic | -0.517 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.656927302 | None | None | N |
| G/D | 0.8341 | likely_pathogenic | 0.8153 | pathogenic | -0.685 | Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.631217747 | None | None | N |
| G/E | 0.9109 | likely_pathogenic | 0.8945 | pathogenic | -0.679 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| G/F | 0.9739 | likely_pathogenic | 0.9752 | pathogenic | -0.682 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/H | 0.9547 | likely_pathogenic | 0.9519 | pathogenic | -1.254 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| G/I | 0.9637 | likely_pathogenic | 0.9688 | pathogenic | 0.125 | Stabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/K | 0.959 | likely_pathogenic | 0.9529 | pathogenic | -0.838 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/L | 0.9535 | likely_pathogenic | 0.956 | pathogenic | 0.125 | Stabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/M | 0.9641 | likely_pathogenic | 0.9701 | pathogenic | 0.071 | Stabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| G/N | 0.8908 | likely_pathogenic | 0.8967 | pathogenic | -0.57 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/P | 0.998 | likely_pathogenic | 0.9976 | pathogenic | -0.027 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/Q | 0.8915 | likely_pathogenic | 0.8952 | pathogenic | -0.62 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| G/R | 0.877 | likely_pathogenic | 0.8577 | pathogenic | -0.744 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.656725498 | None | None | N |
| G/S | 0.3303 | likely_benign | 0.3351 | benign | -0.913 | Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.656321889 | None | None | N |
| G/T | 0.8314 | likely_pathogenic | 0.8498 | pathogenic | -0.804 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| G/V | 0.9145 | likely_pathogenic | 0.9172 | pathogenic | -0.027 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.656927302 | None | None | N |
| G/W | 0.9647 | likely_pathogenic | 0.9638 | pathogenic | -1.191 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| G/Y | 0.9705 | likely_pathogenic | 0.9678 | pathogenic | -0.665 | Destabilizing | 1.0 | D | 0.787 | 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.