Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31789 | 95590;95591;95592 | chr2:178545871;178545870;178545869 | chr2:179410598;179410597;179410596 |
| N2AB | 30148 | 90667;90668;90669 | chr2:178545871;178545870;178545869 | chr2:179410598;179410597;179410596 |
| N2A | 29221 | 87886;87887;87888 | chr2:178545871;178545870;178545869 | chr2:179410598;179410597;179410596 |
| N2B | 22724 | 68395;68396;68397 | chr2:178545871;178545870;178545869 | chr2:179410598;179410597;179410596 |
| Novex-1 | 22849 | 68770;68771;68772 | chr2:178545871;178545870;178545869 | chr2:179410598;179410597;179410596 |
| Novex-2 | 22916 | 68971;68972;68973 | chr2:178545871;178545870;178545869 | chr2:179410598;179410597;179410596 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | None | None | 1.0 | D | 0.893 | 0.851 | 0.635084727198 | gnomAD-4.0.0 | 4.77377E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71687E-06 | 0 | 3.02425E-05 |
| G/R | rs1450258389  |
-0.375 | 1.0 | D | 0.896 | 0.835 | 0.814767087539 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7705 | likely_pathogenic | 0.7539 | pathogenic | -0.581 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | D | 0.558100258 | None | None | N |
| G/C | 0.8873 | likely_pathogenic | 0.8675 | pathogenic | -0.966 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.5822449 | None | None | N |
| G/D | 0.9678 | likely_pathogenic | 0.968 | pathogenic | -0.875 | Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.569114168 | None | None | N |
| G/E | 0.9685 | likely_pathogenic | 0.9661 | pathogenic | -1.019 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| G/F | 0.9695 | likely_pathogenic | 0.9638 | pathogenic | -1.17 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| G/H | 0.975 | likely_pathogenic | 0.9708 | pathogenic | -0.877 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/I | 0.959 | likely_pathogenic | 0.9507 | pathogenic | -0.58 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| G/K | 0.9723 | likely_pathogenic | 0.9697 | pathogenic | -1.113 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| G/L | 0.9516 | likely_pathogenic | 0.9355 | pathogenic | -0.58 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/M | 0.9768 | likely_pathogenic | 0.9699 | pathogenic | -0.509 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| G/N | 0.9558 | likely_pathogenic | 0.9476 | pathogenic | -0.747 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/P | 0.9953 | likely_pathogenic | 0.9953 | pathogenic | -0.544 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| G/Q | 0.9493 | likely_pathogenic | 0.9428 | pathogenic | -1.044 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| G/R | 0.9364 | likely_pathogenic | 0.9344 | pathogenic | -0.623 | Destabilizing | 1.0 | D | 0.896 | deleterious | D | 0.569874637 | None | None | N |
| G/S | 0.6341 | likely_pathogenic | 0.5992 | pathogenic | -0.917 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.562366218 | None | None | N |
| G/T | 0.9176 | likely_pathogenic | 0.8965 | pathogenic | -0.993 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| G/V | 0.9405 | likely_pathogenic | 0.9304 | pathogenic | -0.544 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.549390525 | None | None | N |
| G/W | 0.9733 | likely_pathogenic | 0.9723 | pathogenic | -1.341 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| G/Y | 0.966 | likely_pathogenic | 0.9636 | pathogenic | -1.004 | Destabilizing | 1.0 | D | 0.872 | deleterious | 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.