Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24351 | 73276;73277;73278 | chr2:178573081;178573080;178573079 | chr2:179437808;179437807;179437806 |
| N2AB | 22710 | 68353;68354;68355 | chr2:178573081;178573080;178573079 | chr2:179437808;179437807;179437806 |
| N2A | 21783 | 65572;65573;65574 | chr2:178573081;178573080;178573079 | chr2:179437808;179437807;179437806 |
| N2B | 15286 | 46081;46082;46083 | chr2:178573081;178573080;178573079 | chr2:179437808;179437807;179437806 |
| Novex-1 | 15411 | 46456;46457;46458 | chr2:178573081;178573080;178573079 | chr2:179437808;179437807;179437806 |
| Novex-2 | 15478 | 46657;46658;46659 | chr2:178573081;178573080;178573079 | chr2:179437808;179437807;179437806 |
| 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/S | rs1420684207  |
-0.954 | 1.0 | N | 0.791 | 0.492 | 0.347217280506 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs1420684207 |
-0.954 | 1.0 | N | 0.791 | 0.492 | 0.347217280506 | gnomAD-4.0.0 | 3.84607E-06 | None | None | None | None | I | None | 0 | 1.69595E-05 | None | 0 | 4.87116E-05 | None | 0 | 0 | 0 | 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 | 0.9643 | likely_pathogenic | 0.9674 | pathogenic | -0.426 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | N | 0.513913035 | None | None | I |
| G/C | 0.9901 | likely_pathogenic | 0.9913 | pathogenic | -0.817 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.530322223 | None | None | I |
| G/D | 0.9974 | likely_pathogenic | 0.998 | pathogenic | -0.522 | Destabilizing | 1.0 | D | 0.825 | deleterious | N | 0.508063685 | None | None | I |
| G/E | 0.9983 | likely_pathogenic | 0.9987 | pathogenic | -0.666 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | I |
| G/F | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -1.029 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| G/H | 0.9985 | likely_pathogenic | 0.9989 | pathogenic | -0.677 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| G/I | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -0.435 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| G/K | 0.9981 | likely_pathogenic | 0.9987 | pathogenic | -0.869 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/L | 0.9984 | likely_pathogenic | 0.9986 | pathogenic | -0.435 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| G/M | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -0.422 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| G/N | 0.9958 | likely_pathogenic | 0.9972 | pathogenic | -0.471 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.396 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/Q | 0.9976 | likely_pathogenic | 0.9984 | pathogenic | -0.745 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | I |
| G/R | 0.9928 | likely_pathogenic | 0.9948 | pathogenic | -0.417 | Destabilizing | 1.0 | D | 0.831 | deleterious | N | 0.499176141 | None | None | I |
| G/S | 0.9516 | likely_pathogenic | 0.9609 | pathogenic | -0.679 | Destabilizing | 1.0 | D | 0.791 | deleterious | N | 0.505163623 | None | None | I |
| G/T | 0.9953 | likely_pathogenic | 0.996 | pathogenic | -0.746 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/V | 0.9977 | likely_pathogenic | 0.9979 | pathogenic | -0.396 | Destabilizing | 1.0 | D | 0.808 | deleterious | D | 0.523320784 | None | None | I |
| G/W | 0.9974 | likely_pathogenic | 0.9979 | pathogenic | -1.201 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/Y | 0.9982 | likely_pathogenic | 0.9986 | pathogenic | -0.846 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
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.