Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18771 | 56536;56537;56538 | chr2:178599590;178599589;178599588 | chr2:179464317;179464316;179464315 |
| N2AB | 17130 | 51613;51614;51615 | chr2:178599590;178599589;178599588 | chr2:179464317;179464316;179464315 |
| N2A | 16203 | 48832;48833;48834 | chr2:178599590;178599589;178599588 | chr2:179464317;179464316;179464315 |
| N2B | 9706 | 29341;29342;29343 | chr2:178599590;178599589;178599588 | chr2:179464317;179464316;179464315 |
| Novex-1 | 9831 | 29716;29717;29718 | chr2:178599590;178599589;178599588 | chr2:179464317;179464316;179464315 |
| Novex-2 | 9898 | 29917;29918;29919 | chr2:178599590;178599589;178599588 | chr2:179464317;179464316;179464315 |
| 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/A | None | None | 1.0 | D | 0.779 | 0.801 | 0.551344072312 | gnomAD-4.0.0 | 1.63586E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.93681E-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 | 0.7267 | likely_pathogenic | 0.6429 | pathogenic | -0.263 | Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.579012855 | None | None | I |
| G/C | 0.8804 | likely_pathogenic | 0.8301 | pathogenic | -0.812 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| G/D | 0.9131 | likely_pathogenic | 0.8705 | pathogenic | -0.824 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/E | 0.9525 | likely_pathogenic | 0.9256 | pathogenic | -0.997 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.565593266 | None | None | I |
| G/F | 0.9873 | likely_pathogenic | 0.9803 | pathogenic | -1.081 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/H | 0.9786 | likely_pathogenic | 0.9594 | pathogenic | -0.547 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/I | 0.985 | likely_pathogenic | 0.9692 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/K | 0.982 | likely_pathogenic | 0.9664 | pathogenic | -0.88 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/L | 0.9773 | likely_pathogenic | 0.9607 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/M | 0.9845 | likely_pathogenic | 0.9734 | pathogenic | -0.476 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/N | 0.9527 | likely_pathogenic | 0.9235 | pathogenic | -0.467 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/P | 0.9986 | likely_pathogenic | 0.9976 | pathogenic | -0.366 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/Q | 0.9574 | likely_pathogenic | 0.9287 | pathogenic | -0.783 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | I |
| G/R | 0.958 | likely_pathogenic | 0.9284 | pathogenic | -0.393 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.630290883 | None | None | I |
| G/S | 0.6985 | likely_pathogenic | 0.595 | pathogenic | -0.543 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | I |
| G/T | 0.9379 | likely_pathogenic | 0.8932 | pathogenic | -0.66 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | I |
| G/V | 0.9653 | likely_pathogenic | 0.9352 | pathogenic | -0.366 | Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.614876935 | None | None | I |
| G/W | 0.9843 | likely_pathogenic | 0.9728 | pathogenic | -1.235 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/Y | 0.9794 | likely_pathogenic | 0.9646 | pathogenic | -0.897 | Destabilizing | 1.0 | D | 0.836 | 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.