Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27659 | 83200;83201;83202 | chr2:178563157;178563156;178563155 | chr2:179427884;179427883;179427882 |
| N2AB | 26018 | 78277;78278;78279 | chr2:178563157;178563156;178563155 | chr2:179427884;179427883;179427882 |
| N2A | 25091 | 75496;75497;75498 | chr2:178563157;178563156;178563155 | chr2:179427884;179427883;179427882 |
| N2B | 18594 | 56005;56006;56007 | chr2:178563157;178563156;178563155 | chr2:179427884;179427883;179427882 |
| Novex-1 | 18719 | 56380;56381;56382 | chr2:178563157;178563156;178563155 | chr2:179427884;179427883;179427882 |
| Novex-2 | 18786 | 56581;56582;56583 | chr2:178563157;178563156;178563155 | chr2:179427884;179427883;179427882 |
| 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/I | rs764624631  |
0.124 | 0.041 | N | 0.487 | 0.088 | 0.282179105231 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/I | rs764624631 |
0.124 | 0.041 | N | 0.487 | 0.088 | 0.282179105231 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs764624631 |
0.124 | 0.041 | N | 0.487 | 0.088 | 0.282179105231 | gnomAD-4.0.0 | 2.56242E-06 | None | None | None | None | N | None | 0 | 1.69492E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 1.34002E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.067 | likely_benign | 0.0694 | benign | -0.891 | Destabilizing | None | N | 0.146 | neutral | N | 0.424707423 | None | None | N |
| T/C | 0.2621 | likely_benign | 0.2844 | benign | -0.444 | Destabilizing | 0.703 | D | 0.428 | neutral | None | None | None | None | N |
| T/D | 0.2186 | likely_benign | 0.2222 | benign | -0.285 | Destabilizing | None | N | 0.287 | neutral | None | None | None | None | N |
| T/E | 0.1884 | likely_benign | 0.1883 | benign | -0.201 | Destabilizing | 0.064 | N | 0.377 | neutral | None | None | None | None | N |
| T/F | 0.1267 | likely_benign | 0.1325 | benign | -0.754 | Destabilizing | 0.538 | D | 0.593 | neutral | None | None | None | None | N |
| T/G | 0.1839 | likely_benign | 0.1838 | benign | -1.222 | Destabilizing | 0.064 | N | 0.431 | neutral | None | None | None | None | N |
| T/H | 0.1915 | likely_benign | 0.1875 | benign | -1.329 | Destabilizing | 0.703 | D | 0.527 | neutral | None | None | None | None | N |
| T/I | 0.076 | likely_benign | 0.0857 | benign | -0.072 | Destabilizing | 0.041 | N | 0.487 | neutral | N | 0.494858155 | None | None | N |
| T/K | 0.2099 | likely_benign | 0.2011 | benign | -0.608 | Destabilizing | 0.121 | N | 0.453 | neutral | None | None | None | None | N |
| T/L | 0.056 | likely_benign | 0.0577 | benign | -0.072 | Destabilizing | 0.064 | N | 0.387 | neutral | None | None | None | None | N |
| T/M | 0.0712 | likely_benign | 0.0792 | benign | -0.009 | Destabilizing | 0.538 | D | 0.409 | neutral | None | None | None | None | N |
| T/N | 0.084 | likely_benign | 0.0845 | benign | -0.791 | Destabilizing | 0.001 | N | 0.18 | neutral | N | 0.444602693 | None | None | N |
| T/P | 0.0858 | likely_benign | 0.0783 | benign | -0.312 | Destabilizing | 0.337 | N | 0.505 | neutral | N | 0.413973141 | None | None | N |
| T/Q | 0.1728 | likely_benign | 0.1731 | benign | -0.743 | Destabilizing | 0.403 | N | 0.521 | neutral | None | None | None | None | N |
| T/R | 0.1933 | likely_benign | 0.1825 | benign | -0.541 | Destabilizing | 0.25 | N | 0.515 | neutral | None | None | None | None | N |
| T/S | 0.0799 | likely_benign | 0.0803 | benign | -1.088 | Destabilizing | 0.022 | N | 0.373 | neutral | N | 0.41356771 | None | None | N |
| T/V | 0.0661 | likely_benign | 0.0737 | benign | -0.312 | Destabilizing | None | N | 0.184 | neutral | None | None | None | None | N |
| T/W | 0.4733 | ambiguous | 0.4918 | ambiguous | -0.794 | Destabilizing | 0.964 | D | 0.623 | neutral | None | None | None | None | N |
| T/Y | 0.1801 | likely_benign | 0.177 | benign | -0.507 | Destabilizing | 0.703 | D | 0.587 | neutral | 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.