Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3508 | 10747;10748;10749 | chr2:178757698;178757697;178757696 | chr2:179622425;179622424;179622423 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3462 | 10609;10610;10611 | chr2:178757698;178757697;178757696 | chr2:179622425;179622424;179622423 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | None | None | None | 0.101 | None | gnomAD-4.0.0 | 3.42092E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59779E-06 | 0 | 1.65645E-05 |
| T/I | rs397517823  |
None | None | None | None | 0.147 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| T/I | rs397517823 |
None | None | None | None | 0.147 | None | gnomAD-4.0.0 | 9.29552E-06 | None | None | None | None | I | None | 6.67646E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39043E-06 | 6.58733E-05 | 0 |
| T/K | rs397517823 |
-0.197 | None | None | None | 0.131 | None | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| T/K | rs397517823 |
-0.197 | None | None | None | 0.131 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/K | rs397517823 |
-0.197 | None | None | None | 0.131 | None | gnomAD-4.0.0 | 6.57402E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.4702E-05 | 0 | 0 |
| T/P | None | None | None | None | None | 0.078 | None | gnomAD-4.0.0 | 1.36837E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79889E-06 | 0 | 0 |
| T/R | None | None | None | None | None | 0.135 | None | gnomAD-4.0.0 | 6.84198E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99463E-07 | 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 | 0.0911 | likely_benign | None | None | -0.328 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/C | 0.6029 | likely_pathogenic | None | None | -0.338 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/D | 0.377 | ambiguous | None | None | 0.28 | Stabilizing | None | None | None | None | None | None | None | None | I |
| T/E | 0.2739 | likely_benign | None | None | 0.235 | Stabilizing | None | None | None | None | None | None | None | None | I |
| T/F | 0.4975 | ambiguous | None | None | -0.749 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/G | 0.1951 | likely_benign | None | None | -0.49 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/H | 0.3411 | ambiguous | None | None | -0.699 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/I | 0.4262 | ambiguous | None | None | -0.017 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/K | 0.1908 | likely_benign | None | None | -0.352 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/L | 0.2116 | likely_benign | None | None | -0.017 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/M | 0.1799 | likely_benign | None | None | -0.074 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/N | 0.1366 | likely_benign | None | None | -0.257 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/P | 0.2778 | likely_benign | None | None | -0.091 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/Q | 0.2041 | likely_benign | None | None | -0.382 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/R | 0.1373 | likely_benign | None | None | -0.121 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/S | 0.1032 | likely_benign | None | None | -0.463 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/V | 0.2808 | likely_benign | None | None | -0.091 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/W | 0.782 | likely_pathogenic | None | None | -0.805 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/Y | 0.4991 | ambiguous | None | None | -0.498 | Destabilizing | None | None | None | None | 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.