Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3412 | 10459;10460;10461 | chr2:178759053;178759052;178759051 | chr2:179623780;179623779;179623778 |
| N2AB | 3412 | 10459;10460;10461 | chr2:178759053;178759052;178759051 | chr2:179623780;179623779;179623778 |
| N2A | 3412 | 10459;10460;10461 | chr2:178759053;178759052;178759051 | chr2:179623780;179623779;179623778 |
| N2B | 3366 | 10321;10322;10323 | chr2:178759053;178759052;178759051 | chr2:179623780;179623779;179623778 |
| Novex-1 | 3366 | 10321;10322;10323 | chr2:178759053;178759052;178759051 | chr2:179623780;179623779;179623778 |
| Novex-2 | 3366 | 10321;10322;10323 | chr2:178759053;178759052;178759051 | chr2:179623780;179623779;179623778 |
| Novex-3 | 3412 | 10459;10460;10461 | chr2:178759053;178759052;178759051 | chr2:179623780;179623779;179623778 |
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/R | None | None | 1.0 | D | 0.836 | 0.87 | 0.916700511864 | gnomAD-4.0.0 | 3.18148E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85687E-06 | 0 | 3.02188E-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 | 0.6513 | likely_pathogenic | 0.6308 | pathogenic | -0.682 | Destabilizing | 1.0 | D | 0.741 | deleterious | D | 0.609474863 | None | None | N |
| G/C | 0.9142 | likely_pathogenic | 0.9406 | pathogenic | -0.993 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| G/D | 0.8168 | likely_pathogenic | 0.8845 | pathogenic | -0.727 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| G/E | 0.9034 | likely_pathogenic | 0.9438 | pathogenic | -0.778 | Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.799618471 | None | None | N |
| G/F | 0.9908 | likely_pathogenic | 0.9928 | pathogenic | -1.035 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/H | 0.9875 | likely_pathogenic | 0.9917 | pathogenic | -1.192 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| G/I | 0.9808 | likely_pathogenic | 0.9866 | pathogenic | -0.291 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/K | 0.9818 | likely_pathogenic | 0.9885 | pathogenic | -0.959 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| G/L | 0.9791 | likely_pathogenic | 0.9848 | pathogenic | -0.291 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/M | 0.9824 | likely_pathogenic | 0.9859 | pathogenic | -0.323 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| G/N | 0.9346 | likely_pathogenic | 0.9509 | pathogenic | -0.687 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/P | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -0.38 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/Q | 0.9656 | likely_pathogenic | 0.9749 | pathogenic | -0.847 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| G/R | 0.9642 | likely_pathogenic | 0.9759 | pathogenic | -0.717 | Destabilizing | 1.0 | D | 0.836 | deleterious | D | 0.799618471 | None | None | N |
| G/S | 0.6107 | likely_pathogenic | 0.6647 | pathogenic | -1.048 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| G/T | 0.9266 | likely_pathogenic | 0.9405 | pathogenic | -1.002 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/V | 0.9533 | likely_pathogenic | 0.9666 | pathogenic | -0.38 | Destabilizing | 1.0 | D | 0.824 | deleterious | D | 0.799618471 | None | None | N |
| G/W | 0.987 | likely_pathogenic | 0.9903 | pathogenic | -1.348 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| G/Y | 0.9842 | likely_pathogenic | 0.9891 | pathogenic | -0.915 | Destabilizing | 1.0 | D | 0.788 | 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.