Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20430 | 61513;61514;61515 | chr2:178590437;178590436;178590435 | chr2:179455164;179455163;179455162 |
| N2AB | 18789 | 56590;56591;56592 | chr2:178590437;178590436;178590435 | chr2:179455164;179455163;179455162 |
| N2A | 17862 | 53809;53810;53811 | chr2:178590437;178590436;178590435 | chr2:179455164;179455163;179455162 |
| N2B | 11365 | 34318;34319;34320 | chr2:178590437;178590436;178590435 | chr2:179455164;179455163;179455162 |
| Novex-1 | 11490 | 34693;34694;34695 | chr2:178590437;178590436;178590435 | chr2:179455164;179455163;179455162 |
| Novex-2 | 11557 | 34894;34895;34896 | chr2:178590437;178590436;178590435 | chr2:179455164;179455163;179455162 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/G | None | None | 1.0 | N | 0.757 | 0.568 | 0.782359736722 | gnomAD-4.0.0 | 6.84667E-07 | None | None | None | None | I | None | 0 | 0 | None | 3.8323E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/Y | rs527704660  |
-1.153 | 1.0 | N | 0.797 | 0.432 | 0.604686531655 | gnomAD-2.1.1 | 7.54E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.68299E-04 | None | 0 | None | 0 | 7.07E-05 | 1.41084E-04 |
| C/Y | rs527704660 |
-1.153 | 1.0 | N | 0.797 | 0.432 | 0.604686531655 | gnomAD-3.1.2 | 6.58E-05 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 9.70497E-04 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| C/Y | rs527704660 |
-1.153 | 1.0 | N | 0.797 | 0.432 | 0.604686531655 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| C/Y | rs527704660 |
-1.153 | 1.0 | N | 0.797 | 0.432 | 0.604686531655 | gnomAD-4.0.0 | 5.33305E-05 | None | None | None | None | I | None | 2.66759E-05 | 0 | None | 0 | 6.25978E-04 | None | 0 | 0 | 4.66404E-05 | 0 | 1.60195E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7393 | likely_pathogenic | 0.6833 | pathogenic | -1.707 | Destabilizing | 0.998 | D | 0.572 | neutral | None | None | None | None | I |
| C/D | 0.951 | likely_pathogenic | 0.9329 | pathogenic | -0.371 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| C/E | 0.9452 | likely_pathogenic | 0.9275 | pathogenic | -0.239 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| C/F | 0.7985 | likely_pathogenic | 0.7013 | pathogenic | -1.07 | Destabilizing | 1.0 | D | 0.782 | deleterious | N | 0.448104336 | None | None | I |
| C/G | 0.5093 | ambiguous | 0.414 | ambiguous | -2.018 | Highly Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.484655241 | None | None | I |
| C/H | 0.875 | likely_pathogenic | 0.8412 | pathogenic | -1.798 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| C/I | 0.9434 | likely_pathogenic | 0.91 | pathogenic | -0.897 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | I |
| C/K | 0.9453 | likely_pathogenic | 0.9326 | pathogenic | -0.886 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | I |
| C/L | 0.7745 | likely_pathogenic | 0.6965 | pathogenic | -0.897 | Destabilizing | 0.999 | D | 0.574 | neutral | None | None | None | None | I |
| C/M | 0.8268 | likely_pathogenic | 0.7716 | pathogenic | 0.115 | Stabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| C/N | 0.6684 | likely_pathogenic | 0.6218 | pathogenic | -1.093 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| C/P | 0.9234 | likely_pathogenic | 0.9111 | pathogenic | -1.143 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| C/Q | 0.8575 | likely_pathogenic | 0.8184 | pathogenic | -0.896 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| C/R | 0.7974 | likely_pathogenic | 0.7542 | pathogenic | -0.761 | Destabilizing | 1.0 | D | 0.812 | deleterious | N | 0.4583792 | None | None | I |
| C/S | 0.6984 | likely_pathogenic | 0.6111 | pathogenic | -1.616 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | N | 0.493569209 | None | None | I |
| C/T | 0.6109 | likely_pathogenic | 0.529 | ambiguous | -1.296 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | I |
| C/V | 0.8338 | likely_pathogenic | 0.772 | pathogenic | -1.143 | Destabilizing | 0.999 | D | 0.641 | neutral | None | None | None | None | I |
| C/W | 0.9438 | likely_pathogenic | 0.9181 | pathogenic | -1.098 | Destabilizing | 1.0 | D | 0.79 | deleterious | N | 0.484908731 | None | None | I |
| C/Y | 0.8308 | likely_pathogenic | 0.764 | pathogenic | -1.068 | Destabilizing | 1.0 | D | 0.797 | deleterious | N | 0.461689141 | 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.