Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8545 | 25858;25859;25860 | chr2:178717101;178717100;178717099 | chr2:179581828;179581827;179581826 |
| N2AB | 8228 | 24907;24908;24909 | chr2:178717101;178717100;178717099 | chr2:179581828;179581827;179581826 |
| N2A | 7301 | 22126;22127;22128 | chr2:178717101;178717100;178717099 | chr2:179581828;179581827;179581826 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.963 | D | 0.587 | 0.8 | 0.802542995142 | gnomAD-4.0.0 | 1.37188E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.8033E-06 | 0 | 0 |
| V/E | rs1313924560  |
None | 0.991 | D | 0.659 | 0.878 | 0.916524125449 | 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 |
| V/E | rs1313924560 |
None | 0.991 | D | 0.659 | 0.878 | 0.916524125449 | gnomAD-4.0.0 | 6.5716E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.4702E-05 | 0 | 0 |
| V/I | rs1246177699 |
None | 0.294 | N | 0.568 | 0.32 | 0.496099317193 | 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 |
| V/I | rs1246177699 |
None | 0.294 | N | 0.568 | 0.32 | 0.496099317193 | gnomAD-4.0.0 | 3.86256E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.22798E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.474 | ambiguous | 0.5393 | ambiguous | -1.509 | Destabilizing | 0.963 | D | 0.587 | neutral | D | 0.624786781 | None | None | N |
| V/C | 0.9087 | likely_pathogenic | 0.9227 | pathogenic | -1.034 | Destabilizing | 0.999 | D | 0.665 | neutral | None | None | None | None | N |
| V/D | 0.9642 | likely_pathogenic | 0.974 | pathogenic | -1.249 | Destabilizing | 0.999 | D | 0.701 | prob.neutral | None | None | None | None | N |
| V/E | 0.9104 | likely_pathogenic | 0.9233 | pathogenic | -1.254 | Destabilizing | 0.991 | D | 0.659 | neutral | D | 0.641411555 | None | None | N |
| V/F | 0.4318 | ambiguous | 0.4745 | ambiguous | -1.168 | Destabilizing | 0.188 | N | 0.561 | neutral | None | None | None | None | N |
| V/G | 0.6042 | likely_pathogenic | 0.6854 | pathogenic | -1.829 | Destabilizing | 0.997 | D | 0.66 | neutral | D | 0.641411555 | None | None | N |
| V/H | 0.9679 | likely_pathogenic | 0.9737 | pathogenic | -1.346 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | None | None | None | None | N |
| V/I | 0.079 | likely_benign | 0.0793 | benign | -0.73 | Destabilizing | 0.294 | N | 0.568 | neutral | N | 0.500648665 | None | None | N |
| V/K | 0.9341 | likely_pathogenic | 0.9443 | pathogenic | -1.217 | Destabilizing | 0.997 | D | 0.659 | neutral | None | None | None | None | N |
| V/L | 0.3864 | ambiguous | 0.4386 | ambiguous | -0.73 | Destabilizing | 0.294 | N | 0.589 | neutral | D | 0.583300747 | None | None | N |
| V/M | 0.3304 | likely_benign | 0.371 | ambiguous | -0.573 | Destabilizing | 0.994 | D | 0.685 | prob.neutral | None | None | None | None | N |
| V/N | 0.8782 | likely_pathogenic | 0.9083 | pathogenic | -0.965 | Destabilizing | 0.98 | D | 0.702 | prob.neutral | None | None | None | None | N |
| V/P | 0.8777 | likely_pathogenic | 0.896 | pathogenic | -0.955 | Destabilizing | 0.98 | D | 0.675 | neutral | None | None | None | None | N |
| V/Q | 0.893 | likely_pathogenic | 0.9089 | pathogenic | -1.149 | Destabilizing | 0.996 | D | 0.676 | prob.neutral | None | None | None | None | N |
| V/R | 0.9046 | likely_pathogenic | 0.9183 | pathogenic | -0.702 | Destabilizing | 0.999 | D | 0.705 | prob.neutral | None | None | None | None | N |
| V/S | 0.6842 | likely_pathogenic | 0.7457 | pathogenic | -1.513 | Destabilizing | 0.992 | D | 0.635 | neutral | None | None | None | None | N |
| V/T | 0.5846 | likely_pathogenic | 0.6368 | pathogenic | -1.408 | Destabilizing | 0.934 | D | 0.647 | neutral | None | None | None | None | N |
| V/W | 0.973 | likely_pathogenic | 0.9795 | pathogenic | -1.328 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | N |
| V/Y | 0.9111 | likely_pathogenic | 0.9234 | pathogenic | -1.051 | Destabilizing | 0.982 | D | 0.641 | 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.