Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16890 | 50893;50894;50895 | chr2:178611561;178611560;178611559 | chr2:179476288;179476287;179476286 |
| N2AB | 15249 | 45970;45971;45972 | chr2:178611561;178611560;178611559 | chr2:179476288;179476287;179476286 |
| N2A | 14322 | 43189;43190;43191 | chr2:178611561;178611560;178611559 | chr2:179476288;179476287;179476286 |
| N2B | 7825 | 23698;23699;23700 | chr2:178611561;178611560;178611559 | chr2:179476288;179476287;179476286 |
| Novex-1 | 7950 | 24073;24074;24075 | chr2:178611561;178611560;178611559 | chr2:179476288;179476287;179476286 |
| Novex-2 | 8017 | 24274;24275;24276 | chr2:178611561;178611560;178611559 | chr2:179476288;179476287;179476286 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | rs752204728  |
-2.321 | 0.999 | D | 0.729 | 0.566 | None | gnomAD-2.1.1 | 1.85649E-04 | None | None | None | None | N | None | 0 | 1.30586E-03 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.66168E-04 |
| E/A | rs752204728 |
-2.321 | 0.999 | D | 0.729 | 0.566 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 2.62226E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/A | rs752204728 |
-2.321 | 0.999 | D | 0.729 | 0.566 | None | gnomAD-4.0.0 | 7.30942E-05 | None | None | None | None | N | None | 0 | 9.1572E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 8.54311E-05 |
| E/K | None | None | 0.999 | D | 0.676 | 0.516 | 0.488337271218 | gnomAD-4.0.0 | 1.59284E-06 | None | None | None | None | N | None | 0 | 2.2876E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.9791 | likely_pathogenic | 0.9783 | pathogenic | -1.924 | Destabilizing | 0.999 | D | 0.729 | prob.delet. | D | 0.708779596 | None | None | N |
| E/C | 0.9986 | likely_pathogenic | 0.9983 | pathogenic | -1.073 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| E/D | 0.9723 | likely_pathogenic | 0.9698 | pathogenic | -1.77 | Destabilizing | 0.999 | D | 0.671 | neutral | D | 0.540088166 | None | None | N |
| E/F | 0.9987 | likely_pathogenic | 0.9987 | pathogenic | -1.581 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| E/G | 0.987 | likely_pathogenic | 0.9862 | pathogenic | -2.297 | Highly Destabilizing | 1.0 | D | 0.792 | deleterious | D | 0.689239004 | None | None | N |
| E/H | 0.9979 | likely_pathogenic | 0.9974 | pathogenic | -1.466 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| E/I | 0.9955 | likely_pathogenic | 0.9949 | pathogenic | -0.843 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| E/K | 0.9927 | likely_pathogenic | 0.9914 | pathogenic | -1.941 | Destabilizing | 0.999 | D | 0.676 | prob.neutral | D | 0.654619652 | None | None | N |
| E/L | 0.9954 | likely_pathogenic | 0.9954 | pathogenic | -0.843 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| E/M | 0.9949 | likely_pathogenic | 0.9946 | pathogenic | -0.067 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| E/N | 0.9982 | likely_pathogenic | 0.9979 | pathogenic | -2.058 | Highly Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| E/P | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -1.192 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| E/Q | 0.9359 | likely_pathogenic | 0.9281 | pathogenic | -1.785 | Destabilizing | 1.0 | D | 0.753 | deleterious | N | 0.509667729 | None | None | N |
| E/R | 0.9934 | likely_pathogenic | 0.992 | pathogenic | -1.692 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| E/S | 0.9882 | likely_pathogenic | 0.987 | pathogenic | -2.734 | Highly Destabilizing | 0.999 | D | 0.714 | prob.delet. | None | None | None | None | N |
| E/T | 0.9938 | likely_pathogenic | 0.9931 | pathogenic | -2.383 | Highly Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| E/V | 0.9874 | likely_pathogenic | 0.9859 | pathogenic | -1.192 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.672230744 | None | None | N |
| E/W | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -1.625 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| E/Y | 0.9984 | likely_pathogenic | 0.9984 | pathogenic | -1.418 | Destabilizing | 1.0 | D | 0.831 | 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.