Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28402 | 85429;85430;85431 | chr2:178560928;178560927;178560926 | chr2:179425655;179425654;179425653 |
| N2AB | 26761 | 80506;80507;80508 | chr2:178560928;178560927;178560926 | chr2:179425655;179425654;179425653 |
| N2A | 25834 | 77725;77726;77727 | chr2:178560928;178560927;178560926 | chr2:179425655;179425654;179425653 |
| N2B | 19337 | 58234;58235;58236 | chr2:178560928;178560927;178560926 | chr2:179425655;179425654;179425653 |
| Novex-1 | 19462 | 58609;58610;58611 | chr2:178560928;178560927;178560926 | chr2:179425655;179425654;179425653 |
| Novex-2 | 19529 | 58810;58811;58812 | chr2:178560928;178560927;178560926 | chr2:179425655;179425654;179425653 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs1060500439  |
None | 0.142 | N | 0.335 | 0.091 | 0.0884992946249 | 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 |
| A/T | rs1060500439 |
None | 0.142 | N | 0.335 | 0.091 | 0.0884992946249 | gnomAD-4.0.0 | 2.02998E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.40987E-06 | 0 | 0 |
| A/V | None | None | 0.919 | N | 0.47 | 0.332 | 0.259761712551 | gnomAD-4.0.0 | 1.36842E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99434E-07 | 1.15937E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.54 | ambiguous | 0.5675 | pathogenic | -0.763 | Destabilizing | 1.0 | D | 0.66 | neutral | None | None | None | None | N |
| A/D | 0.3407 | ambiguous | 0.3487 | ambiguous | -0.645 | Destabilizing | 0.991 | D | 0.641 | neutral | None | None | None | None | N |
| A/E | 0.2807 | likely_benign | 0.2899 | benign | -0.797 | Destabilizing | 0.988 | D | 0.621 | neutral | N | 0.462382298 | None | None | N |
| A/F | 0.4008 | ambiguous | 0.4085 | ambiguous | -0.863 | Destabilizing | 0.995 | D | 0.695 | prob.neutral | None | None | None | None | N |
| A/G | 0.1209 | likely_benign | 0.1347 | benign | -0.202 | Destabilizing | 0.958 | D | 0.459 | neutral | N | 0.430712597 | None | None | N |
| A/H | 0.532 | ambiguous | 0.5587 | ambiguous | -0.228 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| A/I | 0.3085 | likely_benign | 0.3126 | benign | -0.326 | Destabilizing | 0.991 | D | 0.612 | neutral | None | None | None | None | N |
| A/K | 0.4547 | ambiguous | 0.4893 | ambiguous | -0.633 | Destabilizing | 0.991 | D | 0.627 | neutral | None | None | None | None | N |
| A/L | 0.1829 | likely_benign | 0.1967 | benign | -0.326 | Destabilizing | 0.938 | D | 0.511 | neutral | None | None | None | None | N |
| A/M | 0.2745 | likely_benign | 0.2805 | benign | -0.512 | Destabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | N |
| A/N | 0.2804 | likely_benign | 0.2909 | benign | -0.281 | Destabilizing | 0.991 | D | 0.661 | neutral | None | None | None | None | N |
| A/P | 0.1391 | likely_benign | 0.1542 | benign | -0.25 | Destabilizing | 0.994 | D | 0.609 | neutral | N | 0.438929435 | None | None | N |
| A/Q | 0.3449 | ambiguous | 0.3685 | ambiguous | -0.56 | Destabilizing | 0.995 | D | 0.658 | neutral | None | None | None | None | N |
| A/R | 0.4 | ambiguous | 0.4334 | ambiguous | -0.171 | Destabilizing | 0.991 | D | 0.627 | neutral | None | None | None | None | N |
| A/S | 0.1017 | likely_benign | 0.1053 | benign | -0.431 | Destabilizing | 0.919 | D | 0.405 | neutral | N | 0.476754317 | None | None | N |
| A/T | 0.118 | likely_benign | 0.1205 | benign | -0.514 | Destabilizing | 0.142 | N | 0.335 | neutral | N | 0.493033279 | None | None | N |
| A/V | 0.1529 | likely_benign | 0.1557 | benign | -0.25 | Destabilizing | 0.919 | D | 0.47 | neutral | N | 0.470504686 | None | None | N |
| A/W | 0.706 | likely_pathogenic | 0.7282 | pathogenic | -0.992 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| A/Y | 0.4988 | ambiguous | 0.5212 | ambiguous | -0.661 | Destabilizing | 1.0 | D | 0.688 | prob.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.