Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24334 | 73225;73226;73227 | chr2:178573132;178573131;178573130 | chr2:179437859;179437858;179437857 |
| N2AB | 22693 | 68302;68303;68304 | chr2:178573132;178573131;178573130 | chr2:179437859;179437858;179437857 |
| N2A | 21766 | 65521;65522;65523 | chr2:178573132;178573131;178573130 | chr2:179437859;179437858;179437857 |
| N2B | 15269 | 46030;46031;46032 | chr2:178573132;178573131;178573130 | chr2:179437859;179437858;179437857 |
| Novex-1 | 15394 | 46405;46406;46407 | chr2:178573132;178573131;178573130 | chr2:179437859;179437858;179437857 |
| Novex-2 | 15461 | 46606;46607;46608 | chr2:178573132;178573131;178573130 | chr2:179437859;179437858;179437857 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/Y | None | None | 0.999 | N | 0.691 | 0.456 | 0.601252736945 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.937 | likely_pathogenic | 0.9422 | pathogenic | -0.468 | Destabilizing | 0.988 | D | 0.635 | neutral | N | 0.466747202 | None | None | N |
| D/C | 0.9922 | likely_pathogenic | 0.9934 | pathogenic | 0.085 | Stabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | N |
| D/E | 0.8255 | likely_pathogenic | 0.8571 | pathogenic | -0.301 | Destabilizing | 0.958 | D | 0.4 | neutral | N | 0.487137174 | None | None | N |
| D/F | 0.9884 | likely_pathogenic | 0.989 | pathogenic | -0.438 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | None | N |
| D/G | 0.8936 | likely_pathogenic | 0.8944 | pathogenic | -0.666 | Destabilizing | 0.919 | D | 0.635 | neutral | N | 0.479446634 | None | None | N |
| D/H | 0.9624 | likely_pathogenic | 0.9628 | pathogenic | -0.44 | Destabilizing | 0.998 | D | 0.685 | prob.neutral | N | 0.493653776 | None | None | N |
| D/I | 0.9913 | likely_pathogenic | 0.9921 | pathogenic | 0.011 | Stabilizing | 0.995 | D | 0.74 | deleterious | None | None | None | None | N |
| D/K | 0.9886 | likely_pathogenic | 0.9892 | pathogenic | 0.329 | Stabilizing | 0.991 | D | 0.697 | prob.neutral | None | None | None | None | N |
| D/L | 0.9755 | likely_pathogenic | 0.9783 | pathogenic | 0.011 | Stabilizing | 0.995 | D | 0.721 | prob.delet. | None | None | None | None | N |
| D/M | 0.9949 | likely_pathogenic | 0.9951 | pathogenic | 0.308 | Stabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | N |
| D/N | 0.7017 | likely_pathogenic | 0.7155 | pathogenic | 0.016 | Stabilizing | 0.142 | N | 0.285 | neutral | N | 0.465088134 | None | None | N |
| D/P | 0.9989 | likely_pathogenic | 0.9985 | pathogenic | -0.127 | Destabilizing | 0.998 | D | 0.739 | prob.delet. | None | None | None | None | N |
| D/Q | 0.9731 | likely_pathogenic | 0.9753 | pathogenic | 0.038 | Stabilizing | 0.991 | D | 0.698 | prob.neutral | None | None | None | None | N |
| D/R | 0.984 | likely_pathogenic | 0.9846 | pathogenic | 0.381 | Stabilizing | 0.991 | D | 0.685 | prob.neutral | None | None | None | None | N |
| D/S | 0.8388 | likely_pathogenic | 0.85 | pathogenic | -0.093 | Destabilizing | 0.938 | D | 0.591 | neutral | None | None | None | None | N |
| D/T | 0.9605 | likely_pathogenic | 0.9627 | pathogenic | 0.067 | Stabilizing | 0.991 | D | 0.703 | prob.neutral | None | None | None | None | N |
| D/V | 0.9701 | likely_pathogenic | 0.9733 | pathogenic | -0.127 | Destabilizing | 0.994 | D | 0.721 | prob.delet. | N | 0.488436309 | None | None | N |
| D/W | 0.9979 | likely_pathogenic | 0.9977 | pathogenic | -0.28 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | N |
| D/Y | 0.926 | likely_pathogenic | 0.9348 | pathogenic | -0.194 | Destabilizing | 0.999 | D | 0.691 | prob.neutral | N | 0.495135033 | 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.