Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31504 | 94735;94736;94737 | chr2:178547015;178547014;178547013 | chr2:179411742;179411741;179411740 |
| N2AB | 29863 | 89812;89813;89814 | chr2:178547015;178547014;178547013 | chr2:179411742;179411741;179411740 |
| N2A | 28936 | 87031;87032;87033 | chr2:178547015;178547014;178547013 | chr2:179411742;179411741;179411740 |
| N2B | 22439 | 67540;67541;67542 | chr2:178547015;178547014;178547013 | chr2:179411742;179411741;179411740 |
| Novex-1 | 22564 | 67915;67916;67917 | chr2:178547015;178547014;178547013 | chr2:179411742;179411741;179411740 |
| Novex-2 | 22631 | 68116;68117;68118 | chr2:178547015;178547014;178547013 | chr2:179411742;179411741;179411740 |
| 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/P | rs777578106  |
-0.042 | 0.991 | N | 0.493 | 0.234 | 0.27132560031 | gnomAD-2.1.1 | 8.11E-06 | None | None | None | None | N | None | 0 | 5.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Q/P | rs777578106 |
-0.042 | 0.991 | N | 0.493 | 0.234 | 0.27132560031 | gnomAD-4.0.0 | 3.208E-06 | None | None | None | None | N | None | 0 | 4.59918E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.3685 | ambiguous | 0.3939 | ambiguous | -0.356 | Destabilizing | 0.855 | D | 0.339 | neutral | None | None | None | None | N |
| Q/C | 0.6818 | likely_pathogenic | 0.708 | pathogenic | 0.264 | Stabilizing | 0.998 | D | 0.496 | neutral | None | None | None | None | N |
| Q/D | 0.8845 | likely_pathogenic | 0.905 | pathogenic | -0.71 | Destabilizing | 0.978 | D | 0.421 | neutral | None | None | None | None | N |
| Q/E | 0.1739 | likely_benign | 0.194 | benign | -0.704 | Destabilizing | 0.931 | D | 0.349 | neutral | N | 0.436934854 | None | None | N |
| Q/F | 0.8434 | likely_pathogenic | 0.8763 | pathogenic | -0.451 | Destabilizing | 0.961 | D | 0.587 | neutral | None | None | None | None | N |
| Q/G | 0.5309 | ambiguous | 0.5631 | ambiguous | -0.616 | Destabilizing | 0.978 | D | 0.487 | neutral | None | None | None | None | N |
| Q/H | 0.489 | ambiguous | 0.5271 | ambiguous | -0.752 | Destabilizing | 0.991 | D | 0.315 | neutral | N | 0.507376374 | None | None | N |
| Q/I | 0.4731 | ambiguous | 0.5208 | ambiguous | 0.263 | Stabilizing | 0.78 | D | 0.484 | neutral | None | None | None | None | N |
| Q/K | 0.1681 | likely_benign | 0.1905 | benign | -0.158 | Destabilizing | 0.931 | D | 0.365 | neutral | N | 0.403651786 | None | None | N |
| Q/L | 0.1984 | likely_benign | 0.221 | benign | 0.263 | Stabilizing | 0.002 | N | 0.152 | neutral | N | 0.377025332 | None | None | N |
| Q/M | 0.4292 | ambiguous | 0.4596 | ambiguous | 0.843 | Stabilizing | 0.961 | D | 0.4 | neutral | None | None | None | None | N |
| Q/N | 0.667 | likely_pathogenic | 0.7057 | pathogenic | -0.533 | Destabilizing | 0.978 | D | 0.403 | neutral | None | None | None | None | N |
| Q/P | 0.9045 | likely_pathogenic | 0.9181 | pathogenic | 0.087 | Stabilizing | 0.991 | D | 0.493 | neutral | N | 0.453387173 | None | None | N |
| Q/R | 0.1635 | likely_benign | 0.183 | benign | -0.007 | Destabilizing | 0.971 | D | 0.413 | neutral | N | 0.353879114 | None | None | N |
| Q/S | 0.5141 | ambiguous | 0.5381 | ambiguous | -0.507 | Destabilizing | 0.978 | D | 0.315 | neutral | None | None | None | None | N |
| Q/T | 0.3719 | ambiguous | 0.4058 | ambiguous | -0.34 | Destabilizing | 0.935 | D | 0.432 | neutral | None | None | None | None | N |
| Q/V | 0.2783 | likely_benign | 0.2983 | benign | 0.087 | Stabilizing | 0.594 | D | 0.347 | neutral | None | None | None | None | N |
| Q/W | 0.8081 | likely_pathogenic | 0.8571 | pathogenic | -0.406 | Destabilizing | 0.998 | D | 0.545 | neutral | None | None | None | None | N |
| Q/Y | 0.7322 | likely_pathogenic | 0.7714 | pathogenic | -0.144 | Destabilizing | 0.994 | D | 0.505 | 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.