Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6829 | 20710;20711;20712 | chr2:178725837;178725836;178725835 | chr2:179590564;179590563;179590562 |
| N2AB | 6512 | 19759;19760;19761 | chr2:178725837;178725836;178725835 | chr2:179590564;179590563;179590562 |
| N2A | 5585 | 16978;16979;16980 | chr2:178725837;178725836;178725835 | chr2:179590564;179590563;179590562 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | rs1173268612  |
None | 1.0 | D | 0.825 | 0.704 | 0.650379344195 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs1173268612 |
None | 1.0 | D | 0.825 | 0.704 | 0.650379344195 | gnomAD-4.0.0 | 2.5647E-06 | None | None | None | None | N | None | 1.69319E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39512E-06 | 0 | 0 |
| G/S | rs139549363 |
-0.792 | 1.0 | D | 0.841 | 0.626 | None | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | N | None | 1.65494E-04 | 2.84E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs139549363 |
-0.792 | 1.0 | D | 0.841 | 0.626 | None | gnomAD-3.1.2 | 9.86E-05 | None | None | None | None | N | None | 3.37919E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07297E-04 | 0 |
| G/S | rs139549363 |
-0.792 | 1.0 | D | 0.841 | 0.626 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| G/S | rs139549363 |
-0.792 | 1.0 | D | 0.841 | 0.626 | None | gnomAD-4.0.0 | 1.42589E-05 | None | None | None | None | N | None | 2.4007E-04 | 1.66856E-05 | None | 0 | 2.22975E-05 | None | 0 | 0 | 1.69581E-06 | 1.09938E-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 | 0.4906 | ambiguous | 0.4965 | ambiguous | -0.649 | Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.592433737 | None | None | N |
| G/C | 0.8613 | likely_pathogenic | 0.8742 | pathogenic | -0.813 | Destabilizing | 1.0 | D | 0.754 | deleterious | D | 0.666947871 | None | None | N |
| G/D | 0.9124 | likely_pathogenic | 0.9219 | pathogenic | -1.002 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.627954928 | None | None | N |
| G/E | 0.9464 | likely_pathogenic | 0.9546 | pathogenic | -1.023 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/F | 0.9879 | likely_pathogenic | 0.987 | pathogenic | -0.901 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| G/H | 0.9803 | likely_pathogenic | 0.9809 | pathogenic | -1.295 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| G/I | 0.984 | likely_pathogenic | 0.9854 | pathogenic | -0.155 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| G/K | 0.9791 | likely_pathogenic | 0.9825 | pathogenic | -1.153 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/L | 0.9708 | likely_pathogenic | 0.9691 | pathogenic | -0.155 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| G/M | 0.9786 | likely_pathogenic | 0.9793 | pathogenic | -0.162 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| G/N | 0.9467 | likely_pathogenic | 0.9482 | pathogenic | -0.901 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| G/P | 0.9971 | likely_pathogenic | 0.9976 | pathogenic | -0.277 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/Q | 0.9487 | likely_pathogenic | 0.9507 | pathogenic | -1.012 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| G/R | 0.9389 | likely_pathogenic | 0.9489 | pathogenic | -0.901 | Destabilizing | 1.0 | D | 0.806 | deleterious | D | 0.666544263 | None | None | N |
| G/S | 0.4559 | ambiguous | 0.4576 | ambiguous | -1.206 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.649919489 | None | None | N |
| G/T | 0.8614 | likely_pathogenic | 0.8913 | pathogenic | -1.132 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/V | 0.9543 | likely_pathogenic | 0.9598 | pathogenic | -0.277 | Destabilizing | 1.0 | D | 0.78 | deleterious | D | 0.666544263 | None | None | N |
| G/W | 0.9764 | likely_pathogenic | 0.9762 | pathogenic | -1.332 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| G/Y | 0.9864 | likely_pathogenic | 0.985 | pathogenic | -0.862 | Destabilizing | 1.0 | D | 0.749 | 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.