Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21625 | 65098;65099;65100 | chr2:178584768;178584767;178584766 | chr2:179449495;179449494;179449493 |
| N2AB | 19984 | 60175;60176;60177 | chr2:178584768;178584767;178584766 | chr2:179449495;179449494;179449493 |
| N2A | 19057 | 57394;57395;57396 | chr2:178584768;178584767;178584766 | chr2:179449495;179449494;179449493 |
| N2B | 12560 | 37903;37904;37905 | chr2:178584768;178584767;178584766 | chr2:179449495;179449494;179449493 |
| Novex-1 | 12685 | 38278;38279;38280 | chr2:178584768;178584767;178584766 | chr2:179449495;179449494;179449493 |
| Novex-2 | 12752 | 38479;38480;38481 | chr2:178584768;178584767;178584766 | chr2:179449495;179449494;179449493 |
| 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/N | None | None | 0.81 | N | 0.446 | 0.189 | 0.633365762502 | gnomAD-4.0.0 | 2.05297E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69882E-06 | 0 | 0 |
| I/T | rs1318752166  |
-0.867 | 0.007 | N | 0.134 | 0.11 | 0.475192790171 | 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 |
| I/T | rs1318752166 |
-0.867 | 0.007 | N | 0.134 | 0.11 | 0.475192790171 | gnomAD-4.0.0 | 6.84322E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15955E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.2687 | likely_benign | 0.3188 | benign | -1.336 | Destabilizing | 0.25 | N | 0.329 | neutral | None | None | None | None | N |
| I/C | 0.5599 | ambiguous | 0.6037 | pathogenic | -0.863 | Destabilizing | 0.992 | D | 0.34 | neutral | None | None | None | None | N |
| I/D | 0.5759 | likely_pathogenic | 0.6968 | pathogenic | -0.699 | Destabilizing | 0.85 | D | 0.448 | neutral | None | None | None | None | N |
| I/E | 0.3969 | ambiguous | 0.4943 | ambiguous | -0.703 | Destabilizing | 0.85 | D | 0.427 | neutral | None | None | None | None | N |
| I/F | 0.1496 | likely_benign | 0.1779 | benign | -0.897 | Destabilizing | 0.81 | D | 0.292 | neutral | N | 0.521212463 | None | None | N |
| I/G | 0.5524 | ambiguous | 0.635 | pathogenic | -1.631 | Destabilizing | 0.85 | D | 0.423 | neutral | None | None | None | None | N |
| I/H | 0.295 | likely_benign | 0.3687 | ambiguous | -0.71 | Destabilizing | 0.992 | D | 0.436 | neutral | None | None | None | None | N |
| I/K | 0.2212 | likely_benign | 0.3 | benign | -0.883 | Destabilizing | 0.85 | D | 0.427 | neutral | None | None | None | None | N |
| I/L | 0.0809 | likely_benign | 0.0916 | benign | -0.615 | Destabilizing | 0.036 | N | 0.221 | neutral | N | 0.460123932 | None | None | N |
| I/M | 0.1 | likely_benign | 0.103 | benign | -0.572 | Destabilizing | 0.099 | N | 0.247 | neutral | N | 0.47012779 | None | None | N |
| I/N | 0.1583 | likely_benign | 0.2015 | benign | -0.746 | Destabilizing | 0.81 | D | 0.446 | neutral | N | 0.4574117 | None | None | N |
| I/P | 0.7955 | likely_pathogenic | 0.8682 | pathogenic | -0.823 | Destabilizing | 0.92 | D | 0.451 | neutral | None | None | None | None | N |
| I/Q | 0.2359 | likely_benign | 0.2996 | benign | -0.9 | Destabilizing | 0.92 | D | 0.447 | neutral | None | None | None | None | N |
| I/R | 0.1869 | likely_benign | 0.2709 | benign | -0.289 | Destabilizing | 0.85 | D | 0.452 | neutral | None | None | None | None | N |
| I/S | 0.1856 | likely_benign | 0.2437 | benign | -1.33 | Destabilizing | 0.379 | N | 0.401 | neutral | N | 0.473226515 | None | None | N |
| I/T | 0.1402 | likely_benign | 0.1658 | benign | -1.211 | Destabilizing | 0.007 | N | 0.134 | neutral | N | 0.4214509 | None | None | N |
| I/V | 0.0869 | likely_benign | 0.0817 | benign | -0.823 | Destabilizing | 0.002 | N | 0.099 | neutral | N | 0.432996045 | None | None | N |
| I/W | 0.7025 | likely_pathogenic | 0.7658 | pathogenic | -0.943 | Destabilizing | 0.992 | D | 0.488 | neutral | None | None | None | None | N |
| I/Y | 0.381 | ambiguous | 0.4648 | ambiguous | -0.719 | Destabilizing | 0.92 | D | 0.348 | 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.