Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16478 | 49657;49658;49659 | chr2:178613851;178613850;178613849 | chr2:179478578;179478577;179478576 |
| N2AB | 14837 | 44734;44735;44736 | chr2:178613851;178613850;178613849 | chr2:179478578;179478577;179478576 |
| N2A | 13910 | 41953;41954;41955 | chr2:178613851;178613850;178613849 | chr2:179478578;179478577;179478576 |
| N2B | 7413 | 22462;22463;22464 | chr2:178613851;178613850;178613849 | chr2:179478578;179478577;179478576 |
| Novex-1 | 7538 | 22837;22838;22839 | chr2:178613851;178613850;178613849 | chr2:179478578;179478577;179478576 |
| Novex-2 | 7605 | 23038;23039;23040 | chr2:178613851;178613850;178613849 | chr2:179478578;179478577;179478576 |
| 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/D | None | None | 1.0 | D | 0.829 | 0.476 | 0.384252928164 | gnomAD-4.0.0 | 1.5941E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86344E-06 | 0 | 0 |
| G/S | rs755810800  |
-0.456 | 1.0 | D | 0.799 | 0.488 | 0.364342057095 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 6.57E-05 | None | 0 | 0 | 0 |
| G/S | rs755810800 |
-0.456 | 1.0 | D | 0.799 | 0.488 | 0.364342057095 | gnomAD-4.0.0 | 1.84882E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.15996E-05 | 2.32299E-05 | 1.6581E-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 | 0.9547 | likely_pathogenic | 0.9449 | pathogenic | -0.169 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | D | 0.666291562 | None | None | I |
| G/C | 0.9848 | likely_pathogenic | 0.9835 | pathogenic | -0.705 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.761286043 | None | None | I |
| G/D | 0.9953 | likely_pathogenic | 0.9952 | pathogenic | -0.635 | Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.621305334 | None | None | I |
| G/E | 0.997 | likely_pathogenic | 0.997 | pathogenic | -0.812 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| G/F | 0.9981 | likely_pathogenic | 0.9982 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/H | 0.997 | likely_pathogenic | 0.997 | pathogenic | -0.451 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/I | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/K | 0.9967 | likely_pathogenic | 0.9963 | pathogenic | -0.595 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| G/L | 0.997 | likely_pathogenic | 0.9971 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/M | 0.9986 | likely_pathogenic | 0.9987 | pathogenic | -0.306 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| G/N | 0.9912 | likely_pathogenic | 0.9937 | pathogenic | -0.215 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -0.278 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| G/Q | 0.9962 | likely_pathogenic | 0.9962 | pathogenic | -0.546 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/R | 0.9895 | likely_pathogenic | 0.9879 | pathogenic | -0.145 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.6077048 | None | None | I |
| G/S | 0.9382 | likely_pathogenic | 0.9319 | pathogenic | -0.315 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.64874733 | None | None | I |
| G/T | 0.9941 | likely_pathogenic | 0.9937 | pathogenic | -0.432 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| G/V | 0.997 | likely_pathogenic | 0.9966 | pathogenic | -0.278 | Destabilizing | 1.0 | D | 0.84 | deleterious | D | 0.659225932 | None | None | I |
| G/W | 0.9963 | likely_pathogenic | 0.9962 | pathogenic | -1.202 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/Y | 0.9971 | likely_pathogenic | 0.9974 | pathogenic | -0.835 | Destabilizing | 1.0 | D | 0.812 | 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.