Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4622 | 14089;14090;14091 | chr2:178739369;178739368;178739367 | chr2:179604096;179604095;179604094 |
| N2AB | 4305 | 13138;13139;13140 | chr2:178739369;178739368;178739367 | chr2:179604096;179604095;179604094 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 4259 | 13000;13001;13002 | chr2:178739369;178739368;178739367 | chr2:179604096;179604095;179604094 |
| Novex-1 | 4384 | 13375;13376;13377 | chr2:178739369;178739368;178739367 | chr2:179604096;179604095;179604094 |
| Novex-2 | 4451 | 13576;13577;13578 | chr2:178739369;178739368;178739367 | chr2:179604096;179604095;179604094 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/F | rs397517831  |
None | 0.033 | N | 0.289 | 0.044 | None | 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 |
| I/F | rs397517831 |
None | 0.033 | N | 0.289 | 0.044 | None | gnomAD-4.0.0 | 6.57047E-06 | None | None | None | None | N | None | 0 | 6.54879E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs750953886 |
-1.552 | None | N | 0.159 | 0.131 | None | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 9.29E-05 | 0 | 0 |
| I/T | rs750953886 |
-1.552 | None | N | 0.159 | 0.131 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.42E-05 | 0 | 0 | 0 | 0 |
| I/T | rs750953886 |
-1.552 | None | N | 0.159 | 0.131 | None | gnomAD-4.0.0 | 3.09838E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.12412E-05 | 0 | 2.54272E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.0962 | likely_benign | 0.0883 | benign | -1.582 | Destabilizing | None | N | 0.153 | neutral | None | None | None | None | N |
| I/C | 0.3888 | ambiguous | 0.3783 | ambiguous | -0.714 | Destabilizing | 0.245 | N | 0.383 | neutral | None | None | None | None | N |
| I/D | 0.2162 | likely_benign | 0.2135 | benign | -1.231 | Destabilizing | 0.009 | N | 0.371 | neutral | None | None | None | None | N |
| I/E | 0.1954 | likely_benign | 0.1943 | benign | -1.255 | Destabilizing | None | N | 0.327 | neutral | None | None | None | None | N |
| I/F | 0.1076 | likely_benign | 0.1055 | benign | -1.186 | Destabilizing | 0.033 | N | 0.289 | neutral | N | 0.439155832 | None | None | N |
| I/G | 0.289 | likely_benign | 0.2791 | benign | -1.875 | Destabilizing | 0.004 | N | 0.36 | neutral | None | None | None | None | N |
| I/H | 0.2155 | likely_benign | 0.2073 | benign | -1.083 | Destabilizing | 0.245 | N | 0.469 | neutral | None | None | None | None | N |
| I/K | 0.1182 | likely_benign | 0.1177 | benign | -1.105 | Destabilizing | None | N | 0.289 | neutral | None | None | None | None | N |
| I/L | 0.0926 | likely_benign | 0.0944 | benign | -0.858 | Destabilizing | None | N | 0.076 | neutral | N | 0.440123294 | None | None | N |
| I/M | 0.0763 | likely_benign | 0.0745 | benign | -0.537 | Destabilizing | 0.108 | N | 0.365 | neutral | N | 0.439155832 | None | None | N |
| I/N | 0.0977 | likely_benign | 0.0995 | benign | -0.827 | Destabilizing | 0.007 | N | 0.452 | neutral | N | 0.426192781 | None | None | N |
| I/P | 0.2898 | likely_benign | 0.2426 | benign | -1.069 | Destabilizing | None | N | 0.342 | neutral | None | None | None | None | N |
| I/Q | 0.1903 | likely_benign | 0.1817 | benign | -1.055 | Destabilizing | 0.001 | N | 0.375 | neutral | None | None | None | None | N |
| I/R | 0.0912 | likely_benign | 0.0927 | benign | -0.417 | Destabilizing | 0.009 | N | 0.455 | neutral | None | None | None | None | N |
| I/S | 0.0954 | likely_benign | 0.095 | benign | -1.343 | Destabilizing | None | N | 0.206 | neutral | N | 0.36214783 | None | None | N |
| I/T | 0.0554 | likely_benign | 0.0542 | benign | -1.262 | Destabilizing | None | N | 0.159 | neutral | N | 0.340424007 | None | None | N |
| I/V | 0.0623 | likely_benign | 0.0611 | benign | -1.069 | Destabilizing | None | N | 0.084 | neutral | N | 0.397223186 | None | None | N |
| I/W | 0.5397 | ambiguous | 0.5143 | ambiguous | -1.255 | Destabilizing | 0.788 | D | 0.453 | neutral | None | None | None | None | N |
| I/Y | 0.2783 | likely_benign | 0.2787 | benign | -1.057 | Destabilizing | 0.085 | N | 0.494 | 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.