Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33399 | 100420;100421;100422 | chr2:178536552;178536551;178536550 | chr2:179401279;179401278;179401277 |
| N2AB | 31758 | 95497;95498;95499 | chr2:178536552;178536551;178536550 | chr2:179401279;179401278;179401277 |
| N2A | 30831 | 92716;92717;92718 | chr2:178536552;178536551;178536550 | chr2:179401279;179401278;179401277 |
| N2B | 24334 | 73225;73226;73227 | chr2:178536552;178536551;178536550 | chr2:179401279;179401278;179401277 |
| Novex-1 | 24459 | 73600;73601;73602 | chr2:178536552;178536551;178536550 | chr2:179401279;179401278;179401277 |
| Novex-2 | 24526 | 73801;73802;73803 | chr2:178536552;178536551;178536550 | chr2:179401279;179401278;179401277 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | None | None | 1.0 | N | 0.874 | 0.484 | 0.553103360211 | gnomAD-4.0.0 | 3.90072E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.70322E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.5907 | likely_pathogenic | 0.6342 | pathogenic | -2.189 | Highly Destabilizing | 1.0 | D | 0.791 | deleterious | N | 0.513262061 | None | None | N |
| P/C | 0.9483 | likely_pathogenic | 0.9555 | pathogenic | -2.129 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/D | 0.9975 | likely_pathogenic | 0.9989 | pathogenic | -2.944 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| P/E | 0.9901 | likely_pathogenic | 0.996 | pathogenic | -2.784 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| P/F | 0.9864 | likely_pathogenic | 0.9941 | pathogenic | -1.378 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/G | 0.9718 | likely_pathogenic | 0.9796 | pathogenic | -2.656 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/H | 0.9885 | likely_pathogenic | 0.9959 | pathogenic | -2.228 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| P/I | 0.6118 | likely_pathogenic | 0.7469 | pathogenic | -0.908 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| P/K | 0.994 | likely_pathogenic | 0.9979 | pathogenic | -1.815 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| P/L | 0.4559 | ambiguous | 0.6043 | pathogenic | -0.908 | Destabilizing | 1.0 | D | 0.874 | deleterious | N | 0.464984504 | None | None | N |
| P/M | 0.8373 | likely_pathogenic | 0.8979 | pathogenic | -1.169 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| P/N | 0.9905 | likely_pathogenic | 0.996 | pathogenic | -2.069 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/Q | 0.9769 | likely_pathogenic | 0.991 | pathogenic | -2.039 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | D | 0.537153214 | None | None | N |
| P/R | 0.9872 | likely_pathogenic | 0.9953 | pathogenic | -1.515 | Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.537153214 | None | None | N |
| P/S | 0.9565 | likely_pathogenic | 0.9742 | pathogenic | -2.65 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.525543419 | None | None | N |
| P/T | 0.8162 | likely_pathogenic | 0.8822 | pathogenic | -2.359 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.536646235 | None | None | N |
| P/V | 0.5084 | ambiguous | 0.5992 | pathogenic | -1.308 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| P/W | 0.9986 | likely_pathogenic | 0.9994 | pathogenic | -1.766 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| P/Y | 0.9944 | likely_pathogenic | 0.998 | pathogenic | -1.45 | Destabilizing | 1.0 | D | 0.902 | 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.