Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14931 | 45016;45017;45018 | chr2:178624489;178624488;178624487 | chr2:179489216;179489215;179489214 |
| N2AB | 13290 | 40093;40094;40095 | chr2:178624489;178624488;178624487 | chr2:179489216;179489215;179489214 |
| N2A | 12363 | 37312;37313;37314 | chr2:178624489;178624488;178624487 | chr2:179489216;179489215;179489214 |
| N2B | 5866 | 17821;17822;17823 | chr2:178624489;178624488;178624487 | chr2:179489216;179489215;179489214 |
| Novex-1 | 5991 | 18196;18197;18198 | chr2:178624489;178624488;178624487 | chr2:179489216;179489215;179489214 |
| Novex-2 | 6058 | 18397;18398;18399 | chr2:178624489;178624488;178624487 | chr2:179489216;179489215;179489214 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs779264506  |
-1.128 | 0.981 | N | 0.521 | 0.31 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| T/A | rs779264506 |
-1.128 | 0.981 | N | 0.521 | 0.31 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.89E-05 | 0 | 0 |
| T/A | rs779264506 |
-1.128 | 0.981 | N | 0.521 | 0.31 | None | gnomAD-4.0.0 | 1.61247E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.20524E-05 | 0 | 0 |
| T/I | rs1292868903 |
None | 0.999 | N | 0.764 | 0.396 | 0.244539031024 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/I | rs1292868903 |
None | 0.999 | N | 0.764 | 0.396 | 0.244539031024 | gnomAD-4.0.0 | 1.86053E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54448E-06 | 0 | 0 |
| T/N | rs1292868903 |
None | 0.999 | N | 0.654 | 0.326 | 0.236890367714 | gnomAD-4.0.0 | 1.36943E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.04872E-05 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | None | None | 0.905 | N | 0.323 | 0.185 | 0.110078149338 | gnomAD-4.0.0 | 2.73886E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.60008E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.271 | likely_benign | 0.5425 | ambiguous | -1.088 | Destabilizing | 0.981 | D | 0.521 | neutral | N | 0.318527527 | None | None | N |
| T/C | 0.8443 | likely_pathogenic | 0.9237 | pathogenic | -0.539 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| T/D | 0.8852 | likely_pathogenic | 0.9553 | pathogenic | -0.568 | Destabilizing | 0.999 | D | 0.695 | prob.neutral | None | None | None | None | N |
| T/E | 0.8685 | likely_pathogenic | 0.961 | pathogenic | -0.474 | Destabilizing | 0.999 | D | 0.683 | prob.neutral | None | None | None | None | N |
| T/F | 0.8822 | likely_pathogenic | 0.9608 | pathogenic | -0.815 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| T/G | 0.6537 | likely_pathogenic | 0.7932 | pathogenic | -1.447 | Destabilizing | 0.997 | D | 0.655 | neutral | None | None | None | None | N |
| T/H | 0.8695 | likely_pathogenic | 0.9475 | pathogenic | -1.559 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| T/I | 0.7436 | likely_pathogenic | 0.9126 | pathogenic | -0.182 | Destabilizing | 0.999 | D | 0.764 | deleterious | N | 0.453118819 | None | None | N |
| T/K | 0.8472 | likely_pathogenic | 0.961 | pathogenic | -0.722 | Destabilizing | 0.999 | D | 0.687 | prob.neutral | None | None | None | None | N |
| T/L | 0.5779 | likely_pathogenic | 0.8034 | pathogenic | -0.182 | Destabilizing | 0.998 | D | 0.613 | neutral | None | None | None | None | N |
| T/M | 0.3543 | ambiguous | 0.6173 | pathogenic | 0.057 | Stabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| T/N | 0.5342 | ambiguous | 0.7504 | pathogenic | -0.928 | Destabilizing | 0.999 | D | 0.654 | neutral | N | 0.513006293 | None | None | N |
| T/P | 0.8906 | likely_pathogenic | 0.9416 | pathogenic | -0.451 | Destabilizing | 0.999 | D | 0.763 | deleterious | N | 0.476817628 | None | None | N |
| T/Q | 0.8059 | likely_pathogenic | 0.9393 | pathogenic | -0.915 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| T/R | 0.8241 | likely_pathogenic | 0.955 | pathogenic | -0.649 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| T/S | 0.335 | likely_benign | 0.4192 | ambiguous | -1.253 | Destabilizing | 0.905 | D | 0.323 | neutral | N | 0.349340775 | None | None | N |
| T/V | 0.5664 | likely_pathogenic | 0.7621 | pathogenic | -0.451 | Destabilizing | 0.998 | D | 0.544 | neutral | None | None | None | None | N |
| T/W | 0.9765 | likely_pathogenic | 0.9906 | pathogenic | -0.797 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| T/Y | 0.8646 | likely_pathogenic | 0.9534 | pathogenic | -0.545 | Destabilizing | 1.0 | D | 0.833 | 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.