Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32675 | 98248;98249;98250 | chr2:178540143;178540142;178540141 | chr2:179404870;179404869;179404868 |
| N2AB | 31034 | 93325;93326;93327 | chr2:178540143;178540142;178540141 | chr2:179404870;179404869;179404868 |
| N2A | 30107 | 90544;90545;90546 | chr2:178540143;178540142;178540141 | chr2:179404870;179404869;179404868 |
| N2B | 23610 | 71053;71054;71055 | chr2:178540143;178540142;178540141 | chr2:179404870;179404869;179404868 |
| Novex-1 | 23735 | 71428;71429;71430 | chr2:178540143;178540142;178540141 | chr2:179404870;179404869;179404868 |
| Novex-2 | 23802 | 71629;71630;71631 | chr2:178540143;178540142;178540141 | chr2:179404870;179404869;179404868 |
| 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/I | rs576274929  |
-0.888 | 0.075 | N | 0.249 | 0.115 | 0.430351802785 | gnomAD-2.1.1 | 5.63E-05 | None | None | None | None | N | None | 6.46E-05 | 2.9E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 9.78E-05 | 0 |
| V/I | rs576274929 |
-0.888 | 0.075 | N | 0.249 | 0.115 | 0.430351802785 | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 2.41E-05 | 1.96309E-04 | 0 | 0 | 1.92678E-04 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/I | rs576274929 |
-0.888 | 0.075 | N | 0.249 | 0.115 | 0.430351802785 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| V/I | rs576274929 |
-0.888 | 0.075 | N | 0.249 | 0.115 | 0.430351802785 | gnomAD-4.0.0 | 2.04529E-05 | None | None | None | None | N | None | 2.66567E-05 | 6.66467E-05 | None | 0 | 2.22846E-05 | None | 0 | 0 | 1.78047E-05 | 3.29475E-05 | 3.20092E-05 |
| V/L | None | None | 0.036 | N | 0.317 | 0.331 | 0.420447328233 | gnomAD-4.0.0 | 6.84384E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99726E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.9189 | likely_pathogenic | 0.9317 | pathogenic | -2.765 | Highly Destabilizing | 0.822 | D | 0.589 | neutral | D | 0.555112787 | None | None | N |
| V/C | 0.9551 | likely_pathogenic | 0.9598 | pathogenic | -2.254 | Highly Destabilizing | 0.998 | D | 0.727 | prob.delet. | None | None | None | None | N |
| V/D | 0.9972 | likely_pathogenic | 0.9982 | pathogenic | -3.568 | Highly Destabilizing | 0.99 | D | 0.872 | deleterious | D | 0.637377264 | None | None | N |
| V/E | 0.9922 | likely_pathogenic | 0.9948 | pathogenic | -3.283 | Highly Destabilizing | 0.993 | D | 0.83 | deleterious | None | None | None | None | N |
| V/F | 0.8277 | likely_pathogenic | 0.8507 | pathogenic | -1.528 | Destabilizing | 0.976 | D | 0.713 | prob.delet. | D | 0.573217042 | None | None | N |
| V/G | 0.9446 | likely_pathogenic | 0.9575 | pathogenic | -3.285 | Highly Destabilizing | 0.971 | D | 0.851 | deleterious | D | 0.637377264 | None | None | N |
| V/H | 0.9971 | likely_pathogenic | 0.9981 | pathogenic | -2.947 | Highly Destabilizing | 0.998 | D | 0.855 | deleterious | None | None | None | None | N |
| V/I | 0.0866 | likely_benign | 0.0785 | benign | -1.225 | Destabilizing | 0.075 | N | 0.249 | neutral | N | 0.491101065 | None | None | N |
| V/K | 0.9935 | likely_pathogenic | 0.996 | pathogenic | -2.369 | Highly Destabilizing | 0.978 | D | 0.828 | deleterious | None | None | None | None | N |
| V/L | 0.5333 | ambiguous | 0.5272 | ambiguous | -1.225 | Destabilizing | 0.036 | N | 0.317 | neutral | N | 0.517646375 | None | None | N |
| V/M | 0.7333 | likely_pathogenic | 0.7441 | pathogenic | -1.521 | Destabilizing | 0.956 | D | 0.617 | neutral | None | None | None | None | N |
| V/N | 0.9901 | likely_pathogenic | 0.9925 | pathogenic | -2.965 | Highly Destabilizing | 0.993 | D | 0.879 | deleterious | None | None | None | None | N |
| V/P | 0.9892 | likely_pathogenic | 0.9933 | pathogenic | -1.727 | Destabilizing | 0.993 | D | 0.854 | deleterious | None | None | None | None | N |
| V/Q | 0.9916 | likely_pathogenic | 0.9943 | pathogenic | -2.668 | Highly Destabilizing | 0.993 | D | 0.869 | deleterious | None | None | None | None | N |
| V/R | 0.9872 | likely_pathogenic | 0.992 | pathogenic | -2.264 | Highly Destabilizing | 0.978 | D | 0.879 | deleterious | None | None | None | None | N |
| V/S | 0.9749 | likely_pathogenic | 0.9792 | pathogenic | -3.438 | Highly Destabilizing | 0.978 | D | 0.817 | deleterious | None | None | None | None | N |
| V/T | 0.9431 | likely_pathogenic | 0.9491 | pathogenic | -3.029 | Highly Destabilizing | 0.86 | D | 0.604 | neutral | None | None | None | None | N |
| V/W | 0.9962 | likely_pathogenic | 0.9978 | pathogenic | -2.021 | Highly Destabilizing | 0.998 | D | 0.833 | deleterious | None | None | None | None | N |
| V/Y | 0.9834 | likely_pathogenic | 0.9882 | pathogenic | -1.858 | Destabilizing | 0.978 | D | 0.725 | prob.delet. | 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.