Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3492 | 10699;10700;10701 | chr2:178757746;178757745;178757744 | chr2:179622473;179622472;179622471 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3446 | 10561;10562;10563 | chr2:178757746;178757745;178757744 | chr2:179622473;179622472;179622471 |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs1418266828  |
0.07 | None | None | None | 0.586 | None | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65453E-04 |
| P/L | rs1418266828 |
0.07 | None | None | None | 0.586 | None | gnomAD-4.0.0 | 4.77328E-06 | None | None | None | None | I | None | 0 | 2.28624E-05 | None | 0 | 0 | None | 0 | 0 | 5.71611E-06 | 0 | 0 |
| P/T | rs1297125768 |
-0.475 | None | None | None | 0.573 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| P/T | rs1297125768 |
-0.475 | None | None | None | 0.573 | None | gnomAD-4.0.0 | 1.59111E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85811E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.8125 | likely_pathogenic | None | None | -0.802 | Destabilizing | None | None | None | None | None | None | None | None | I |
| P/C | 0.9843 | likely_pathogenic | None | None | -0.687 | Destabilizing | None | None | None | None | None | None | None | None | I |
| P/D | 0.9776 | likely_pathogenic | None | None | -0.513 | Destabilizing | None | None | None | None | None | None | None | None | I |
| P/E | 0.9435 | likely_pathogenic | None | None | -0.62 | Destabilizing | None | None | None | None | None | None | None | None | I |
| P/F | 0.9927 | likely_pathogenic | None | None | -0.931 | Destabilizing | None | None | None | None | None | None | None | None | I |
| P/G | 0.9444 | likely_pathogenic | None | None | -0.962 | Destabilizing | None | None | None | None | None | None | None | None | I |
| P/H | 0.9539 | likely_pathogenic | None | None | -0.483 | Destabilizing | None | None | None | None | None | None | None | None | I |
| P/I | 0.9667 | likely_pathogenic | None | None | -0.521 | Destabilizing | None | None | None | None | None | None | None | None | I |
| P/K | 0.9657 | likely_pathogenic | None | None | -0.685 | Destabilizing | None | None | None | None | None | None | None | None | I |
| P/L | 0.8839 | likely_pathogenic | None | None | -0.521 | Destabilizing | None | None | None | None | None | None | None | None | I |
| P/M | 0.9752 | likely_pathogenic | None | None | -0.41 | Destabilizing | None | None | None | None | None | None | None | None | I |
| P/N | 0.9732 | likely_pathogenic | None | None | -0.407 | Destabilizing | None | None | None | None | None | None | None | None | I |
| P/Q | 0.91 | likely_pathogenic | None | None | -0.673 | Destabilizing | None | None | None | None | None | None | None | None | I |
| P/R | 0.9129 | likely_pathogenic | None | None | -0.095 | Destabilizing | None | None | None | None | None | None | None | None | I |
| P/S | 0.9014 | likely_pathogenic | None | None | -0.797 | Destabilizing | None | None | None | None | None | None | None | None | I |
| P/T | 0.8638 | likely_pathogenic | None | None | -0.805 | Destabilizing | None | None | None | None | None | None | None | None | I |
| P/V | 0.9336 | likely_pathogenic | None | None | -0.579 | Destabilizing | None | None | None | None | None | None | None | None | I |
| P/W | 0.9949 | likely_pathogenic | None | None | -0.997 | Destabilizing | None | None | None | None | None | None | None | None | I |
| P/Y | 0.9873 | likely_pathogenic | None | None | -0.723 | Destabilizing | None | None | None | None | None | None | None | None | I |
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.