Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20440 | 61543;61544;61545 | chr2:178590407;178590406;178590405 | chr2:179455134;179455133;179455132 |
| N2AB | 18799 | 56620;56621;56622 | chr2:178590407;178590406;178590405 | chr2:179455134;179455133;179455132 |
| N2A | 17872 | 53839;53840;53841 | chr2:178590407;178590406;178590405 | chr2:179455134;179455133;179455132 |
| N2B | 11375 | 34348;34349;34350 | chr2:178590407;178590406;178590405 | chr2:179455134;179455133;179455132 |
| Novex-1 | 11500 | 34723;34724;34725 | chr2:178590407;178590406;178590405 | chr2:179455134;179455133;179455132 |
| Novex-2 | 11567 | 34924;34925;34926 | chr2:178590407;178590406;178590405 | chr2:179455134;179455133;179455132 |
| 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/E | rs770189012  |
-1.461 | 0.999 | N | 0.834 | 0.411 | 0.526486031964 | gnomAD-2.1.1 | 4.38E-05 | None | None | None | None | N | None | 0 | 2.89E-05 | None | 0 | 0 | None | 0 | None | 0 | 7.16E-05 | 2.88101E-04 |
| G/E | rs770189012 |
-1.461 | 0.999 | N | 0.834 | 0.411 | 0.526486031964 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/E | rs770189012 |
-1.461 | 0.999 | N | 0.834 | 0.411 | 0.526486031964 | gnomAD-4.0.0 | 3.48365E-05 | None | None | None | None | N | None | 0 | 1.68549E-05 | None | 0 | 0 | None | 1.56966E-05 | 0 | 4.24658E-05 | 0 | 6.4317E-05 |
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 | 0.492 | ambiguous | 0.4084 | ambiguous | -0.517 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | N | 0.49135696 | None | None | N |
| G/C | 0.6015 | likely_pathogenic | 0.5027 | ambiguous | -0.904 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/D | 0.2826 | likely_benign | 0.209 | benign | -0.927 | Destabilizing | 0.852 | D | 0.585 | neutral | None | None | None | None | N |
| G/E | 0.4514 | ambiguous | 0.323 | benign | -1.059 | Destabilizing | 0.999 | D | 0.834 | deleterious | N | 0.501890345 | None | None | N |
| G/F | 0.9188 | likely_pathogenic | 0.8762 | pathogenic | -1.042 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/H | 0.7566 | likely_pathogenic | 0.6619 | pathogenic | -0.868 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| G/I | 0.9039 | likely_pathogenic | 0.833 | pathogenic | -0.456 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| G/K | 0.7851 | likely_pathogenic | 0.6687 | pathogenic | -1.184 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| G/L | 0.8644 | likely_pathogenic | 0.8004 | pathogenic | -0.456 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| G/M | 0.86 | likely_pathogenic | 0.7996 | pathogenic | -0.429 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/N | 0.3146 | likely_benign | 0.2682 | benign | -0.79 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/P | 0.9928 | likely_pathogenic | 0.9822 | pathogenic | -0.439 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/Q | 0.6551 | likely_pathogenic | 0.553 | ambiguous | -1.067 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/R | 0.7466 | likely_pathogenic | 0.6118 | pathogenic | -0.694 | Destabilizing | 1.0 | D | 0.862 | deleterious | D | 0.52240091 | None | None | N |
| G/S | 0.2714 | likely_benign | 0.2275 | benign | -0.957 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| G/T | 0.5904 | likely_pathogenic | 0.4805 | ambiguous | -1.021 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| G/V | 0.8095 | likely_pathogenic | 0.7085 | pathogenic | -0.439 | Destabilizing | 1.0 | D | 0.844 | deleterious | D | 0.541265634 | None | None | N |
| G/W | 0.7913 | likely_pathogenic | 0.6827 | pathogenic | -1.261 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/Y | 0.7945 | likely_pathogenic | 0.694 | pathogenic | -0.91 | Destabilizing | 1.0 | D | 0.828 | 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.