Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16479 | 49660;49661;49662 | chr2:178613848;178613847;178613846 | chr2:179478575;179478574;179478573 |
| N2AB | 14838 | 44737;44738;44739 | chr2:178613848;178613847;178613846 | chr2:179478575;179478574;179478573 |
| N2A | 13911 | 41956;41957;41958 | chr2:178613848;178613847;178613846 | chr2:179478575;179478574;179478573 |
| N2B | 7414 | 22465;22466;22467 | chr2:178613848;178613847;178613846 | chr2:179478575;179478574;179478573 |
| Novex-1 | 7539 | 22840;22841;22842 | chr2:178613848;178613847;178613846 | chr2:179478575;179478574;179478573 |
| Novex-2 | 7606 | 23041;23042;23043 | chr2:178613848;178613847;178613846 | chr2:179478575;179478574;179478573 |
| 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/D | rs2056796893  |
None | 1.0 | D | 0.696 | 0.491 | 0.474643619859 | gnomAD-4.0.0 | 1.59419E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43596E-05 | 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 | 0.9006 | likely_pathogenic | 0.8083 | pathogenic | -0.141 | Destabilizing | 1.0 | D | 0.614 | neutral | D | 0.570137342 | None | None | I |
| G/C | 0.9417 | likely_pathogenic | 0.8562 | pathogenic | -0.836 | Destabilizing | 1.0 | D | 0.79 | deleterious | D | 0.746615225 | None | None | I |
| G/D | 0.9438 | likely_pathogenic | 0.8816 | pathogenic | -0.374 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | D | 0.662557621 | None | None | I |
| G/E | 0.9711 | likely_pathogenic | 0.9317 | pathogenic | -0.531 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| G/F | 0.988 | likely_pathogenic | 0.9762 | pathogenic | -0.938 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/H | 0.9805 | likely_pathogenic | 0.9436 | pathogenic | -0.282 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | I |
| G/I | 0.9858 | likely_pathogenic | 0.9759 | pathogenic | -0.409 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/K | 0.9773 | likely_pathogenic | 0.9356 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| G/L | 0.981 | likely_pathogenic | 0.9636 | pathogenic | -0.409 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/M | 0.9879 | likely_pathogenic | 0.9718 | pathogenic | -0.472 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/N | 0.9369 | likely_pathogenic | 0.8575 | pathogenic | -0.166 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | I |
| G/P | 0.9977 | likely_pathogenic | 0.9969 | pathogenic | -0.295 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| G/Q | 0.9692 | likely_pathogenic | 0.9149 | pathogenic | -0.421 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/R | 0.9561 | likely_pathogenic | 0.8902 | pathogenic | -0.061 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.606306001 | None | None | I |
| G/S | 0.7922 | likely_pathogenic | 0.6296 | pathogenic | -0.31 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | D | 0.594538707 | None | None | I |
| G/T | 0.9627 | likely_pathogenic | 0.9279 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| G/V | 0.9786 | likely_pathogenic | 0.9619 | pathogenic | -0.295 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.746615225 | None | None | I |
| G/W | 0.9853 | likely_pathogenic | 0.9684 | pathogenic | -1.045 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | I |
| G/Y | 0.9808 | likely_pathogenic | 0.9562 | pathogenic | -0.714 | Destabilizing | 1.0 | D | 0.773 | 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.