Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28512 | 85759;85760;85761 | chr2:178560598;178560597;178560596 | chr2:179425325;179425324;179425323 |
| N2AB | 26871 | 80836;80837;80838 | chr2:178560598;178560597;178560596 | chr2:179425325;179425324;179425323 |
| N2A | 25944 | 78055;78056;78057 | chr2:178560598;178560597;178560596 | chr2:179425325;179425324;179425323 |
| N2B | 19447 | 58564;58565;58566 | chr2:178560598;178560597;178560596 | chr2:179425325;179425324;179425323 |
| Novex-1 | 19572 | 58939;58940;58941 | chr2:178560598;178560597;178560596 | chr2:179425325;179425324;179425323 |
| Novex-2 | 19639 | 59140;59141;59142 | chr2:178560598;178560597;178560596 | chr2:179425325;179425324;179425323 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1018186238  |
None | 0.977 | D | 0.651 | 0.442 | 0.602375283534 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs1018186238 |
None | 0.977 | D | 0.651 | 0.442 | 0.602375283534 | gnomAD-4.0.0 | 6.57108E-06 | None | None | None | None | N | None | 2.41173E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs764706572 |
-0.587 | 0.117 | N | 0.243 | 0.091 | 0.324436698001 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs764706572 |
-0.587 | 0.117 | N | 0.243 | 0.091 | 0.324436698001 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.4651 | ambiguous | 0.5443 | ambiguous | -1.961 | Destabilizing | 0.977 | D | 0.651 | neutral | D | 0.529357517 | None | None | N |
| V/C | 0.8883 | likely_pathogenic | 0.9159 | pathogenic | -1.457 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| V/D | 0.9505 | likely_pathogenic | 0.9699 | pathogenic | -2.04 | Highly Destabilizing | 0.999 | D | 0.83 | deleterious | None | None | None | None | N |
| V/E | 0.8882 | likely_pathogenic | 0.9148 | pathogenic | -1.92 | Destabilizing | 0.999 | D | 0.821 | deleterious | D | 0.549037087 | None | None | N |
| V/F | 0.4624 | ambiguous | 0.5116 | ambiguous | -1.326 | Destabilizing | 0.995 | D | 0.799 | deleterious | None | None | None | None | N |
| V/G | 0.6893 | likely_pathogenic | 0.7483 | pathogenic | -2.423 | Highly Destabilizing | 0.999 | D | 0.836 | deleterious | D | 0.549037087 | None | None | N |
| V/H | 0.9613 | likely_pathogenic | 0.9699 | pathogenic | -2.076 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| V/I | 0.09 | likely_benign | 0.0955 | benign | -0.724 | Destabilizing | 0.117 | N | 0.243 | neutral | N | 0.483062293 | None | None | N |
| V/K | 0.9255 | likely_pathogenic | 0.9373 | pathogenic | -1.702 | Destabilizing | 0.998 | D | 0.825 | deleterious | None | None | None | None | N |
| V/L | 0.4383 | ambiguous | 0.44 | ambiguous | -0.724 | Destabilizing | 0.898 | D | 0.634 | neutral | N | 0.479051332 | None | None | N |
| V/M | 0.3844 | ambiguous | 0.3924 | ambiguous | -0.598 | Destabilizing | 0.995 | D | 0.769 | deleterious | None | None | None | None | N |
| V/N | 0.8755 | likely_pathogenic | 0.9178 | pathogenic | -1.695 | Destabilizing | 0.999 | D | 0.875 | deleterious | None | None | None | None | N |
| V/P | 0.9353 | likely_pathogenic | 0.9568 | pathogenic | -1.105 | Destabilizing | 0.999 | D | 0.829 | deleterious | None | None | None | None | N |
| V/Q | 0.8974 | likely_pathogenic | 0.9191 | pathogenic | -1.687 | Destabilizing | 0.999 | D | 0.877 | deleterious | None | None | None | None | N |
| V/R | 0.9038 | likely_pathogenic | 0.9231 | pathogenic | -1.354 | Destabilizing | 0.999 | D | 0.876 | deleterious | None | None | None | None | N |
| V/S | 0.7546 | likely_pathogenic | 0.8256 | pathogenic | -2.316 | Highly Destabilizing | 0.998 | D | 0.824 | deleterious | None | None | None | None | N |
| V/T | 0.6656 | likely_pathogenic | 0.7342 | pathogenic | -2.057 | Highly Destabilizing | 0.983 | D | 0.669 | neutral | None | None | None | None | N |
| V/W | 0.9744 | likely_pathogenic | 0.9745 | pathogenic | -1.679 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| V/Y | 0.8535 | likely_pathogenic | 0.8866 | pathogenic | -1.351 | Destabilizing | 0.999 | D | 0.8 | 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.