Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26959 | 81100;81101;81102 | chr2:178565257;178565256;178565255 | chr2:179429984;179429983;179429982 |
| N2AB | 25318 | 76177;76178;76179 | chr2:178565257;178565256;178565255 | chr2:179429984;179429983;179429982 |
| N2A | 24391 | 73396;73397;73398 | chr2:178565257;178565256;178565255 | chr2:179429984;179429983;179429982 |
| N2B | 17894 | 53905;53906;53907 | chr2:178565257;178565256;178565255 | chr2:179429984;179429983;179429982 |
| Novex-1 | 18019 | 54280;54281;54282 | chr2:178565257;178565256;178565255 | chr2:179429984;179429983;179429982 |
| Novex-2 | 18086 | 54481;54482;54483 | chr2:178565257;178565256;178565255 | chr2:179429984;179429983;179429982 |
| 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 | rs768259414  |
-0.278 | 1.0 | D | 0.799 | 0.781 | 0.626855883447 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| G/D | rs768259414 |
-0.278 | 1.0 | D | 0.799 | 0.781 | 0.626855883447 | gnomAD-4.0.0 | 1.36854E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79905E-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 | 0.6533 | likely_pathogenic | 0.5527 | ambiguous | -0.306 | Destabilizing | 1.0 | D | 0.655 | neutral | D | 0.563689988 | None | None | I |
| G/C | 0.8157 | likely_pathogenic | 0.7721 | pathogenic | -0.862 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | D | 0.592992737 | None | None | I |
| G/D | 0.9261 | likely_pathogenic | 0.8735 | pathogenic | -0.68 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.574198118 | None | None | I |
| G/E | 0.9422 | likely_pathogenic | 0.9041 | pathogenic | -0.856 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| G/F | 0.9725 | likely_pathogenic | 0.9631 | pathogenic | -1.136 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| G/H | 0.9702 | likely_pathogenic | 0.9564 | pathogenic | -0.509 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | I |
| G/I | 0.9706 | likely_pathogenic | 0.9558 | pathogenic | -0.526 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| G/K | 0.9694 | likely_pathogenic | 0.9514 | pathogenic | -0.715 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/L | 0.9678 | likely_pathogenic | 0.9545 | pathogenic | -0.526 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| G/M | 0.9725 | likely_pathogenic | 0.9597 | pathogenic | -0.451 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | I |
| G/N | 0.9317 | likely_pathogenic | 0.891 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/P | 0.9992 | likely_pathogenic | 0.9986 | pathogenic | -0.422 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/Q | 0.9351 | likely_pathogenic | 0.9068 | pathogenic | -0.732 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/R | 0.9305 | likely_pathogenic | 0.8919 | pathogenic | -0.243 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.633541188 | None | None | I |
| G/S | 0.5459 | ambiguous | 0.4443 | ambiguous | -0.51 | Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.574924973 | None | None | I |
| G/T | 0.8952 | likely_pathogenic | 0.8334 | pathogenic | -0.627 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/V | 0.9334 | likely_pathogenic | 0.9044 | pathogenic | -0.422 | Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.61812724 | None | None | I |
| G/W | 0.9722 | likely_pathogenic | 0.9621 | pathogenic | -1.25 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | I |
| G/Y | 0.9666 | likely_pathogenic | 0.9541 | pathogenic | -0.909 | Destabilizing | 1.0 | D | 0.763 | 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.