Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35208 | 105847;105848;105849 | chr2:178530993;178530992;178530991 | chr2:179395720;179395719;179395718 |
| N2AB | 33567 | 100924;100925;100926 | chr2:178530993;178530992;178530991 | chr2:179395720;179395719;179395718 |
| N2A | 32640 | 98143;98144;98145 | chr2:178530993;178530992;178530991 | chr2:179395720;179395719;179395718 |
| N2B | 26143 | 78652;78653;78654 | chr2:178530993;178530992;178530991 | chr2:179395720;179395719;179395718 |
| Novex-1 | 26268 | 79027;79028;79029 | chr2:178530993;178530992;178530991 | chr2:179395720;179395719;179395718 |
| Novex-2 | 26335 | 79228;79229;79230 | chr2:178530993;178530992;178530991 | chr2:179395720;179395719;179395718 |
| 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/R | rs1688870986  |
None | 1.0 | D | 0.813 | 0.634 | 0.618982361579 | gnomAD-4.0.0 | 1.59093E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8575E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6095 | likely_pathogenic | 0.7889 | pathogenic | -0.345 | Destabilizing | 0.996 | D | 0.592 | neutral | D | 0.595960875 | None | None | N |
| G/C | 0.8593 | likely_pathogenic | 0.9352 | pathogenic | -0.837 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| G/D | 0.7275 | likely_pathogenic | 0.8642 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| G/E | 0.776 | likely_pathogenic | 0.9004 | pathogenic | -1.087 | Destabilizing | 0.999 | D | 0.791 | deleterious | D | 0.53991814 | None | None | N |
| G/F | 0.9744 | likely_pathogenic | 0.9884 | pathogenic | -1.194 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/H | 0.9581 | likely_pathogenic | 0.9815 | pathogenic | -0.582 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| G/I | 0.9433 | likely_pathogenic | 0.9805 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/K | 0.9355 | likely_pathogenic | 0.9703 | pathogenic | -0.826 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| G/L | 0.9571 | likely_pathogenic | 0.9824 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| G/M | 0.9584 | likely_pathogenic | 0.9835 | pathogenic | -0.438 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| G/N | 0.8283 | likely_pathogenic | 0.904 | pathogenic | -0.46 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| G/P | 0.9974 | likely_pathogenic | 0.999 | pathogenic | -0.453 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/Q | 0.8904 | likely_pathogenic | 0.9471 | pathogenic | -0.821 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/R | 0.8835 | likely_pathogenic | 0.9471 | pathogenic | -0.306 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.619611309 | None | None | N |
| G/S | 0.454 | ambiguous | 0.6251 | pathogenic | -0.536 | Destabilizing | 0.983 | D | 0.554 | neutral | None | None | None | None | N |
| G/T | 0.806 | likely_pathogenic | 0.9049 | pathogenic | -0.665 | Destabilizing | 0.999 | D | 0.791 | deleterious | None | None | None | None | N |
| G/V | 0.8777 | likely_pathogenic | 0.9559 | pathogenic | -0.453 | Destabilizing | 1.0 | D | 0.792 | deleterious | D | 0.652487608 | None | None | N |
| G/W | 0.9347 | likely_pathogenic | 0.9715 | pathogenic | -1.312 | Destabilizing | 1.0 | D | 0.775 | deleterious | D | 0.652891217 | None | None | N |
| G/Y | 0.9399 | likely_pathogenic | 0.9744 | pathogenic | -0.976 | Destabilizing | 1.0 | D | 0.817 | 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.