Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32809 | 98650;98651;98652 | chr2:178539640;178539639;178539638 | chr2:179404367;179404366;179404365 |
| N2AB | 31168 | 93727;93728;93729 | chr2:178539640;178539639;178539638 | chr2:179404367;179404366;179404365 |
| N2A | 30241 | 90946;90947;90948 | chr2:178539640;178539639;178539638 | chr2:179404367;179404366;179404365 |
| N2B | 23744 | 71455;71456;71457 | chr2:178539640;178539639;178539638 | chr2:179404367;179404366;179404365 |
| Novex-1 | 23869 | 71830;71831;71832 | chr2:178539640;178539639;178539638 | chr2:179404367;179404366;179404365 |
| Novex-2 | 23936 | 72031;72032;72033 | chr2:178539640;178539639;178539638 | chr2:179404367;179404366;179404365 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | rs1271415335  |
None | 0.99 | N | 0.465 | 0.238 | 0.0806252709748 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/H | rs1271415335 |
None | 0.99 | N | 0.465 | 0.238 | 0.0806252709748 | gnomAD-4.0.0 | 2.5622E-06 | None | None | None | None | N | None | 3.38215E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/P | rs1060500398 |
0.037 | 0.97 | N | 0.453 | 0.358 | None | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| Q/P | rs1060500398 |
0.037 | 0.97 | N | 0.453 | 0.358 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Q/P | rs1060500398 |
0.037 | 0.97 | N | 0.453 | 0.358 | None | gnomAD-4.0.0 | 3.09854E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23804E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2557 | likely_benign | 0.2591 | benign | -0.392 | Destabilizing | 0.559 | D | 0.509 | neutral | None | None | None | None | N |
| Q/C | 0.759 | likely_pathogenic | 0.7471 | pathogenic | 0.115 | Stabilizing | 0.998 | D | 0.63 | neutral | None | None | None | None | N |
| Q/D | 0.5806 | likely_pathogenic | 0.5588 | ambiguous | -0.66 | Destabilizing | 0.86 | D | 0.477 | neutral | None | None | None | None | N |
| Q/E | 0.1412 | likely_benign | 0.1379 | benign | -0.631 | Destabilizing | 0.656 | D | 0.487 | neutral | N | 0.442468385 | None | None | N |
| Q/F | 0.798 | likely_pathogenic | 0.7882 | pathogenic | -0.439 | Destabilizing | 0.978 | D | 0.623 | neutral | None | None | None | None | N |
| Q/G | 0.2977 | likely_benign | 0.2861 | benign | -0.668 | Destabilizing | 0.86 | D | 0.457 | neutral | None | None | None | None | N |
| Q/H | 0.3081 | likely_benign | 0.2928 | benign | -0.791 | Destabilizing | 0.99 | D | 0.465 | neutral | N | 0.388828689 | None | None | N |
| Q/I | 0.6041 | likely_pathogenic | 0.601 | pathogenic | 0.274 | Stabilizing | 0.956 | D | 0.615 | neutral | None | None | None | None | N |
| Q/K | 0.1478 | likely_benign | 0.1447 | benign | -0.132 | Destabilizing | 0.822 | D | 0.537 | neutral | N | 0.411838834 | None | None | N |
| Q/L | 0.1891 | likely_benign | 0.1773 | benign | 0.274 | Stabilizing | 0.698 | D | 0.459 | neutral | N | 0.409742678 | None | None | N |
| Q/M | 0.4333 | ambiguous | 0.426 | ambiguous | 0.808 | Stabilizing | 0.978 | D | 0.465 | neutral | None | None | None | None | N |
| Q/N | 0.3507 | ambiguous | 0.3275 | benign | -0.596 | Destabilizing | 0.86 | D | 0.463 | neutral | None | None | None | None | N |
| Q/P | 0.6844 | likely_pathogenic | 0.6538 | pathogenic | 0.082 | Stabilizing | 0.97 | D | 0.453 | neutral | N | 0.482565569 | None | None | N |
| Q/R | 0.1626 | likely_benign | 0.1637 | benign | -0.034 | Destabilizing | 0.822 | D | 0.525 | neutral | N | 0.426018853 | None | None | N |
| Q/S | 0.2427 | likely_benign | 0.2336 | benign | -0.612 | Destabilizing | 0.754 | D | 0.506 | neutral | None | None | None | None | N |
| Q/T | 0.1647 | likely_benign | 0.1668 | benign | -0.412 | Destabilizing | 0.019 | N | 0.23 | neutral | None | None | None | None | N |
| Q/V | 0.3985 | ambiguous | 0.4008 | ambiguous | 0.082 | Stabilizing | 0.754 | D | 0.464 | neutral | None | None | None | None | N |
| Q/W | 0.8215 | likely_pathogenic | 0.811 | pathogenic | -0.369 | Destabilizing | 0.998 | D | 0.636 | neutral | None | None | None | None | N |
| Q/Y | 0.6707 | likely_pathogenic | 0.6518 | pathogenic | -0.095 | Destabilizing | 0.993 | D | 0.495 | 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.