Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16718 | 50377;50378;50379 | chr2:178612373;178612372;178612371 | chr2:179477100;179477099;179477098 |
| N2AB | 15077 | 45454;45455;45456 | chr2:178612373;178612372;178612371 | chr2:179477100;179477099;179477098 |
| N2A | 14150 | 42673;42674;42675 | chr2:178612373;178612372;178612371 | chr2:179477100;179477099;179477098 |
| N2B | 7653 | 23182;23183;23184 | chr2:178612373;178612372;178612371 | chr2:179477100;179477099;179477098 |
| Novex-1 | 7778 | 23557;23558;23559 | chr2:178612373;178612372;178612371 | chr2:179477100;179477099;179477098 |
| Novex-2 | 7845 | 23758;23759;23760 | chr2:178612373;178612372;178612371 | chr2:179477100;179477099;179477098 |
| 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/V | None | None | 1.0 | D | 0.841 | 0.662 | 0.863703880688 | gnomAD-4.0.0 | 1.59394E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43332E-05 | 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 | 0.7403 | likely_pathogenic | 0.8525 | pathogenic | -0.52 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | D | 0.567443663 | None | None | N |
| G/C | 0.8999 | likely_pathogenic | 0.9508 | pathogenic | -0.94 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.763149646 | None | None | N |
| G/D | 0.8401 | likely_pathogenic | 0.9021 | pathogenic | -0.631 | Destabilizing | 1.0 | D | 0.809 | deleterious | N | 0.483451209 | None | None | N |
| G/E | 0.925 | likely_pathogenic | 0.9663 | pathogenic | -0.765 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| G/F | 0.9782 | likely_pathogenic | 0.9874 | pathogenic | -1.078 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| G/H | 0.9583 | likely_pathogenic | 0.9798 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| G/I | 0.9712 | likely_pathogenic | 0.9886 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/K | 0.9741 | likely_pathogenic | 0.9898 | pathogenic | -0.98 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/L | 0.9655 | likely_pathogenic | 0.9813 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/M | 0.9677 | likely_pathogenic | 0.9845 | pathogenic | -0.42 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/N | 0.6857 | likely_pathogenic | 0.779 | pathogenic | -0.604 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/P | 0.9948 | likely_pathogenic | 0.9982 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/Q | 0.9374 | likely_pathogenic | 0.9731 | pathogenic | -0.878 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| G/R | 0.9657 | likely_pathogenic | 0.9854 | pathogenic | -0.559 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.649010727 | None | None | N |
| G/S | 0.5198 | ambiguous | 0.655 | pathogenic | -0.841 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.553032025 | None | None | N |
| G/T | 0.8087 | likely_pathogenic | 0.9138 | pathogenic | -0.897 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| G/V | 0.9401 | likely_pathogenic | 0.9746 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.657888672 | None | None | N |
| G/W | 0.9736 | likely_pathogenic | 0.9872 | pathogenic | -1.259 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/Y | 0.9539 | likely_pathogenic | 0.9757 | pathogenic | -0.9 | Destabilizing | 1.0 | D | 0.811 | 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.