Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1471 | 4636;4637;4638 | chr2:178777773;178777772;178777771 | chr2:179642500;179642499;179642498 |
| N2AB | 1471 | 4636;4637;4638 | chr2:178777773;178777772;178777771 | chr2:179642500;179642499;179642498 |
| N2A | 1471 | 4636;4637;4638 | chr2:178777773;178777772;178777771 | chr2:179642500;179642499;179642498 |
| N2B | 1425 | 4498;4499;4500 | chr2:178777773;178777772;178777771 | chr2:179642500;179642499;179642498 |
| Novex-1 | 1425 | 4498;4499;4500 | chr2:178777773;178777772;178777771 | chr2:179642500;179642499;179642498 |
| Novex-2 | 1425 | 4498;4499;4500 | chr2:178777773;178777772;178777771 | chr2:179642500;179642499;179642498 |
| Novex-3 | 1471 | 4636;4637;4638 | chr2:178777773;178777772;178777771 | chr2:179642500;179642499;179642498 |
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 | rs1028140338  |
None | 1.0 | D | 0.77 | 0.715 | 0.667215114413 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/A | rs1028140338 |
None | 1.0 | D | 0.77 | 0.715 | 0.667215114413 | gnomAD-4.0.0 | 1.3147E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.93945E-05 | 0 | 0 |
| G/E | rs1028140338 |
None | 1.0 | D | 0.831 | 0.693 | 0.876035374508 | gnomAD-4.0.0 | 1.59073E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85688E-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 | 0.6426 | likely_pathogenic | 0.7092 | pathogenic | -0.543 | Destabilizing | 1.0 | D | 0.77 | deleterious | D | 0.716098307 | None | None | I |
| G/C | 0.8155 | likely_pathogenic | 0.8622 | pathogenic | -0.947 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/D | 0.5778 | likely_pathogenic | 0.6384 | pathogenic | -1.089 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/E | 0.6836 | likely_pathogenic | 0.7493 | pathogenic | -1.253 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.68819278 | None | None | I |
| G/F | 0.9517 | likely_pathogenic | 0.966 | pathogenic | -1.226 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/H | 0.8332 | likely_pathogenic | 0.8755 | pathogenic | -0.828 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/I | 0.9607 | likely_pathogenic | 0.9763 | pathogenic | -0.619 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | I |
| G/K | 0.8393 | likely_pathogenic | 0.8795 | pathogenic | -1.162 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | I |
| G/L | 0.9221 | likely_pathogenic | 0.943 | pathogenic | -0.619 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/M | 0.93 | likely_pathogenic | 0.9494 | pathogenic | -0.495 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/N | 0.4993 | ambiguous | 0.5577 | ambiguous | -0.76 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/P | 0.9973 | likely_pathogenic | 0.9981 | pathogenic | -0.56 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/Q | 0.771 | likely_pathogenic | 0.8171 | pathogenic | -1.102 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/R | 0.7927 | likely_pathogenic | 0.8434 | pathogenic | -0.615 | Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.752979017 | None | None | I |
| G/S | 0.3379 | likely_benign | 0.3952 | ambiguous | -0.868 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| G/T | 0.7664 | likely_pathogenic | 0.8222 | pathogenic | -0.976 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | I |
| G/V | 0.9228 | likely_pathogenic | 0.9497 | pathogenic | -0.56 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.752641877 | None | None | I |
| G/W | 0.9135 | likely_pathogenic | 0.9372 | pathogenic | -1.372 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.821075666 | None | None | I |
| G/Y | 0.8817 | likely_pathogenic | 0.9132 | pathogenic | -1.052 | Destabilizing | 1.0 | D | 0.82 | deleterious | 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.