Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7164 | 21715;21716;21717 | chr2:178723610;178723609;178723608 | chr2:179588337;179588336;179588335 |
| N2AB | 6847 | 20764;20765;20766 | chr2:178723610;178723609;178723608 | chr2:179588337;179588336;179588335 |
| N2A | 5920 | 17983;17984;17985 | chr2:178723610;178723609;178723608 | chr2:179588337;179588336;179588335 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs927054837  |
None | 0.248 | D | 0.273 | 0.443 | 0.270889551736 | gnomAD-4.0.0 | 1.36911E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79939E-05 | 0 | 0 |
| P/L | rs981191810 |
-0.075 | 0.961 | D | 0.593 | 0.51 | None | gnomAD-2.1.1 | 8.08E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| P/L | rs981191810 |
-0.075 | 0.961 | D | 0.593 | 0.51 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs981191810 |
-0.075 | 0.961 | D | 0.593 | 0.51 | None | gnomAD-4.0.0 | 3.84664E-06 | None | None | None | None | I | None | 3.38444E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.3946E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0734 | likely_benign | 0.0806 | benign | -0.48 | Destabilizing | 0.248 | N | 0.273 | neutral | D | 0.52327237 | None | None | I |
| P/C | 0.5174 | ambiguous | 0.5858 | pathogenic | -0.752 | Destabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | I |
| P/D | 0.4886 | ambiguous | 0.5208 | ambiguous | -0.393 | Destabilizing | 0.942 | D | 0.473 | neutral | None | None | None | None | I |
| P/E | 0.2465 | likely_benign | 0.2716 | benign | -0.484 | Destabilizing | 0.503 | D | 0.289 | neutral | None | None | None | None | I |
| P/F | 0.3746 | ambiguous | 0.4381 | ambiguous | -0.673 | Destabilizing | 0.999 | D | 0.65 | neutral | None | None | None | None | I |
| P/G | 0.3424 | ambiguous | 0.3804 | ambiguous | -0.596 | Destabilizing | 0.97 | D | 0.51 | neutral | None | None | None | None | I |
| P/H | 0.1726 | likely_benign | 0.1878 | benign | -0.032 | Destabilizing | 1.0 | D | 0.565 | neutral | D | 0.642424165 | None | None | I |
| P/I | 0.2694 | likely_benign | 0.3109 | benign | -0.308 | Destabilizing | 0.991 | D | 0.633 | neutral | None | None | None | None | I |
| P/K | 0.2244 | likely_benign | 0.2468 | benign | -0.475 | Destabilizing | 0.97 | D | 0.46 | neutral | None | None | None | None | I |
| P/L | 0.0987 | likely_benign | 0.115 | benign | -0.308 | Destabilizing | 0.961 | D | 0.593 | neutral | D | 0.605045657 | None | None | I |
| P/M | 0.2688 | likely_benign | 0.3126 | benign | -0.59 | Destabilizing | 1.0 | D | 0.561 | neutral | None | None | None | None | I |
| P/N | 0.3684 | ambiguous | 0.4088 | ambiguous | -0.309 | Destabilizing | 0.996 | D | 0.546 | neutral | None | None | None | None | I |
| P/Q | 0.1331 | likely_benign | 0.144 | benign | -0.503 | Destabilizing | 0.991 | D | 0.481 | neutral | None | None | None | None | I |
| P/R | 0.1338 | likely_benign | 0.1462 | benign | 0.016 | Stabilizing | 0.989 | D | 0.541 | neutral | D | 0.626001196 | None | None | I |
| P/S | 0.108 | likely_benign | 0.1181 | benign | -0.642 | Destabilizing | 0.925 | D | 0.446 | neutral | D | 0.538400884 | None | None | I |
| P/T | 0.1092 | likely_benign | 0.1272 | benign | -0.633 | Destabilizing | 0.433 | N | 0.289 | neutral | D | 0.580729089 | None | None | I |
| P/V | 0.1866 | likely_benign | 0.2154 | benign | -0.335 | Destabilizing | 0.97 | D | 0.511 | neutral | None | None | None | None | I |
| P/W | 0.5636 | ambiguous | 0.6151 | pathogenic | -0.745 | Destabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | I |
| P/Y | 0.3553 | ambiguous | 0.399 | ambiguous | -0.466 | Destabilizing | 0.999 | D | 0.649 | neutral | 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.