Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1511 | 4756;4757;4758 | chr2:178777534;178777533;178777532 | chr2:179642261;179642260;179642259 |
| N2AB | 1511 | 4756;4757;4758 | chr2:178777534;178777533;178777532 | chr2:179642261;179642260;179642259 |
| N2A | 1511 | 4756;4757;4758 | chr2:178777534;178777533;178777532 | chr2:179642261;179642260;179642259 |
| N2B | 1465 | 4618;4619;4620 | chr2:178777534;178777533;178777532 | chr2:179642261;179642260;179642259 |
| Novex-1 | 1465 | 4618;4619;4620 | chr2:178777534;178777533;178777532 | chr2:179642261;179642260;179642259 |
| Novex-2 | 1465 | 4618;4619;4620 | chr2:178777534;178777533;178777532 | chr2:179642261;179642260;179642259 |
| Novex-3 | 1511 | 4756;4757;4758 | chr2:178777534;178777533;178777532 | chr2:179642261;179642260;179642259 |
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/A | rs751606948  |
-0.87 | 1.0 | D | 0.697 | 0.521 | 0.456830177556 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.83E-06 | 0 |
| G/A | rs751606948 |
-0.87 | 1.0 | D | 0.697 | 0.521 | 0.456830177556 | gnomAD-4.0.0 | 1.36835E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.7337E-04 | 0 | 0 | 1.6564E-05 |
| G/D | rs751606948 |
-1.557 | 1.0 | D | 0.86 | 0.644 | 0.490701487448 | gnomAD-2.1.1 | 1.42E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.11E-05 | 0 |
| G/D | rs751606948 |
-1.557 | 1.0 | D | 0.86 | 0.644 | 0.490701487448 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| G/D | rs751606948 |
-1.557 | 1.0 | D | 0.86 | 0.644 | 0.490701487448 | gnomAD-4.0.0 | 4.46159E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.2545E-05 | 0 | 1.60092E-04 |
| G/S | rs1045727624 |
None | 1.0 | D | 0.769 | 0.533 | 0.458013479912 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8427 | likely_pathogenic | 0.8331 | pathogenic | -0.891 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | D | 0.659220404 | None | None | N |
| G/C | 0.9194 | likely_pathogenic | 0.9164 | pathogenic | -1.025 | Destabilizing | 1.0 | D | 0.79 | deleterious | D | 0.797332586 | None | None | N |
| G/D | 0.9571 | likely_pathogenic | 0.9533 | pathogenic | -1.98 | Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.632181141 | None | None | N |
| G/E | 0.9732 | likely_pathogenic | 0.9705 | pathogenic | -2.029 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/F | 0.99 | likely_pathogenic | 0.9879 | pathogenic | -1.177 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| G/H | 0.978 | likely_pathogenic | 0.9755 | pathogenic | -1.58 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/I | 0.9872 | likely_pathogenic | 0.9863 | pathogenic | -0.491 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| G/K | 0.9825 | likely_pathogenic | 0.9806 | pathogenic | -1.61 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/L | 0.9809 | likely_pathogenic | 0.9781 | pathogenic | -0.491 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| G/M | 0.9832 | likely_pathogenic | 0.982 | pathogenic | -0.324 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| G/N | 0.912 | likely_pathogenic | 0.9075 | pathogenic | -1.319 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| G/P | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -0.584 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/Q | 0.9572 | likely_pathogenic | 0.9534 | pathogenic | -1.524 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| G/R | 0.9564 | likely_pathogenic | 0.9506 | pathogenic | -1.202 | Destabilizing | 1.0 | D | 0.844 | deleterious | D | 0.686976861 | None | None | N |
| G/S | 0.6744 | likely_pathogenic | 0.6573 | pathogenic | -1.474 | Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.648955745 | None | None | N |
| G/T | 0.9458 | likely_pathogenic | 0.9418 | pathogenic | -1.465 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/V | 0.9801 | likely_pathogenic | 0.979 | pathogenic | -0.584 | Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.725672223 | None | None | N |
| G/W | 0.9839 | likely_pathogenic | 0.9817 | pathogenic | -1.594 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/Y | 0.9815 | likely_pathogenic | 0.9795 | pathogenic | -1.212 | Destabilizing | 1.0 | D | 0.803 | 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.