Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25745 | 77458;77459;77460 | chr2:178568899;178568898;178568897 | chr2:179433626;179433625;179433624 |
| N2AB | 24104 | 72535;72536;72537 | chr2:178568899;178568898;178568897 | chr2:179433626;179433625;179433624 |
| N2A | 23177 | 69754;69755;69756 | chr2:178568899;178568898;178568897 | chr2:179433626;179433625;179433624 |
| N2B | 16680 | 50263;50264;50265 | chr2:178568899;178568898;178568897 | chr2:179433626;179433625;179433624 |
| Novex-1 | 16805 | 50638;50639;50640 | chr2:178568899;178568898;178568897 | chr2:179433626;179433625;179433624 |
| Novex-2 | 16872 | 50839;50840;50841 | chr2:178568899;178568898;178568897 | chr2:179433626;179433625;179433624 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | None | None | 1.0 | N | 0.738 | 0.681 | 0.667756737924 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9758 | likely_pathogenic | 0.9834 | pathogenic | -2.837 | Highly Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| W/C | 0.9955 | likely_pathogenic | 0.9966 | pathogenic | -1.206 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | D | 0.522527998 | None | None | N |
| W/D | 0.9939 | likely_pathogenic | 0.9954 | pathogenic | -1.156 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| W/E | 0.9963 | likely_pathogenic | 0.9975 | pathogenic | -1.086 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| W/F | 0.5667 | likely_pathogenic | 0.5825 | pathogenic | -1.811 | Destabilizing | 1.0 | D | 0.595 | neutral | None | None | None | None | N |
| W/G | 0.9339 | likely_pathogenic | 0.9497 | pathogenic | -3.029 | Highly Destabilizing | 1.0 | D | 0.645 | neutral | D | 0.536744686 | None | None | N |
| W/H | 0.9877 | likely_pathogenic | 0.9885 | pathogenic | -1.312 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| W/I | 0.9688 | likely_pathogenic | 0.9765 | pathogenic | -2.157 | Highly Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| W/K | 0.9984 | likely_pathogenic | 0.9987 | pathogenic | -1.318 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| W/L | 0.942 | likely_pathogenic | 0.9579 | pathogenic | -2.157 | Highly Destabilizing | 1.0 | D | 0.645 | neutral | D | 0.523360464 | None | None | N |
| W/M | 0.9798 | likely_pathogenic | 0.9851 | pathogenic | -1.623 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| W/N | 0.9914 | likely_pathogenic | 0.9929 | pathogenic | -1.58 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| W/P | 0.9814 | likely_pathogenic | 0.9861 | pathogenic | -2.397 | Highly Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| W/Q | 0.998 | likely_pathogenic | 0.9985 | pathogenic | -1.613 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| W/R | 0.9977 | likely_pathogenic | 0.9982 | pathogenic | -0.699 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | N | 0.515918179 | None | None | N |
| W/S | 0.9682 | likely_pathogenic | 0.9757 | pathogenic | -2.122 | Highly Destabilizing | 1.0 | D | 0.736 | prob.delet. | N | 0.518044546 | None | None | N |
| W/T | 0.9785 | likely_pathogenic | 0.9845 | pathogenic | -2.01 | Highly Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| W/V | 0.9691 | likely_pathogenic | 0.9787 | pathogenic | -2.397 | Highly Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| W/Y | 0.7774 | likely_pathogenic | 0.7878 | pathogenic | -1.584 | Destabilizing | 1.0 | D | 0.541 | neutral | 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.