Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15297 | 46114;46115;46116 | chr2:178620721;178620720;178620719 | chr2:179485448;179485447;179485446 |
| N2AB | 13656 | 41191;41192;41193 | chr2:178620721;178620720;178620719 | chr2:179485448;179485447;179485446 |
| N2A | 12729 | 38410;38411;38412 | chr2:178620721;178620720;178620719 | chr2:179485448;179485447;179485446 |
| N2B | 6232 | 18919;18920;18921 | chr2:178620721;178620720;178620719 | chr2:179485448;179485447;179485446 |
| Novex-1 | 6357 | 19294;19295;19296 | chr2:178620721;178620720;178620719 | chr2:179485448;179485447;179485446 |
| Novex-2 | 6424 | 19495;19496;19497 | chr2:178620721;178620720;178620719 | chr2:179485448;179485447;179485446 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs775158152  |
-1.758 | 0.999 | D | 0.762 | 0.73 | 0.715428137178 | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | N | None | 0 | 1.13514E-04 | None | 0 | 0 | None | 0 | None | 0 | 7.85E-06 | 0 |
| V/A | rs775158152 |
-1.758 | 0.999 | D | 0.762 | 0.73 | 0.715428137178 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/A | rs775158152 |
-1.758 | 0.999 | D | 0.762 | 0.73 | 0.715428137178 | gnomAD-4.0.0 | 1.67464E-05 | None | None | None | None | N | None | 0 | 6.67824E-05 | None | 0 | 0 | None | 0 | 0 | 1.86594E-05 | 0 | 1.60313E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.7523 | likely_pathogenic | 0.6553 | pathogenic | -2.134 | Highly Destabilizing | 0.999 | D | 0.762 | deleterious | D | 0.5457157 | None | None | N |
| V/C | 0.9676 | likely_pathogenic | 0.9528 | pathogenic | -1.526 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| V/D | 0.9944 | likely_pathogenic | 0.9889 | pathogenic | -2.591 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| V/E | 0.9797 | likely_pathogenic | 0.9665 | pathogenic | -2.486 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | D | 0.545412332 | None | None | N |
| V/F | 0.7979 | likely_pathogenic | 0.7204 | pathogenic | -1.329 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| V/G | 0.8991 | likely_pathogenic | 0.8378 | pathogenic | -2.543 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.545412332 | None | None | N |
| V/H | 0.9945 | likely_pathogenic | 0.9899 | pathogenic | -2.082 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| V/I | 0.0971 | likely_benign | 0.1031 | benign | -1.036 | Destabilizing | 0.997 | D | 0.729 | prob.delet. | D | 0.533050298 | None | None | N |
| V/K | 0.9787 | likely_pathogenic | 0.9657 | pathogenic | -1.938 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| V/L | 0.4966 | ambiguous | 0.4632 | ambiguous | -1.036 | Destabilizing | 0.997 | D | 0.763 | deleterious | N | 0.516274776 | None | None | N |
| V/M | 0.581 | likely_pathogenic | 0.5256 | ambiguous | -0.932 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| V/N | 0.9813 | likely_pathogenic | 0.9677 | pathogenic | -1.938 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| V/P | 0.9748 | likely_pathogenic | 0.9578 | pathogenic | -1.375 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| V/Q | 0.9793 | likely_pathogenic | 0.9658 | pathogenic | -1.993 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| V/R | 0.9666 | likely_pathogenic | 0.9441 | pathogenic | -1.427 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| V/S | 0.9265 | likely_pathogenic | 0.8831 | pathogenic | -2.463 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| V/T | 0.7295 | likely_pathogenic | 0.6674 | pathogenic | -2.257 | Highly Destabilizing | 0.999 | D | 0.836 | deleterious | None | None | None | None | N |
| V/W | 0.995 | likely_pathogenic | 0.9912 | pathogenic | -1.694 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| V/Y | 0.9864 | likely_pathogenic | 0.9751 | pathogenic | -1.428 | Destabilizing | 1.0 | D | 0.909 | 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.