Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14963 | 45112;45113;45114 | chr2:178622696;178622695;178622694 | chr2:179487423;179487422;179487421 |
| N2AB | 13322 | 40189;40190;40191 | chr2:178622696;178622695;178622694 | chr2:179487423;179487422;179487421 |
| N2A | 12395 | 37408;37409;37410 | chr2:178622696;178622695;178622694 | chr2:179487423;179487422;179487421 |
| N2B | 5898 | 17917;17918;17919 | chr2:178622696;178622695;178622694 | chr2:179487423;179487422;179487421 |
| Novex-1 | 6023 | 18292;18293;18294 | chr2:178622696;178622695;178622694 | chr2:179487423;179487422;179487421 |
| Novex-2 | 6090 | 18493;18494;18495 | chr2:178622696;178622695;178622694 | chr2:179487423;179487422;179487421 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/G | rs763137894  |
-2.552 | 1.0 | D | 0.863 | 0.743 | 0.879665004704 | gnomAD-2.1.1 | 3.19E-05 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 2.87853E-04 | 0 | 0 |
| C/G | rs763137894 |
-2.552 | 1.0 | D | 0.863 | 0.743 | 0.879665004704 | gnomAD-3.1.2 | 6.59E-06 | None | None | disulfide | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.44E-05 | 0 | 0 | 0 | 0 |
| C/G | rs763137894 |
-2.552 | 1.0 | D | 0.863 | 0.743 | 0.879665004704 | gnomAD-4.0.0 | 9.04418E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.46014E-05 | 0 | 2.41031E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7922 | likely_pathogenic | 0.8157 | pathogenic | -1.334 | Destabilizing | 0.998 | D | 0.656 | neutral | None | None | disulfide | None | N |
| C/D | 0.9971 | likely_pathogenic | 0.9961 | pathogenic | -1.608 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9984 | likely_pathogenic | 0.998 | pathogenic | -1.366 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | disulfide | None | N |
| C/F | 0.8563 | likely_pathogenic | 0.8683 | pathogenic | -0.736 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.711077181 | disulfide | None | N |
| C/G | 0.6636 | likely_pathogenic | 0.6559 | pathogenic | -1.662 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.688068799 | disulfide | None | N |
| C/H | 0.9962 | likely_pathogenic | 0.9954 | pathogenic | -1.889 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | disulfide | None | N |
| C/I | 0.8254 | likely_pathogenic | 0.8646 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9992 | likely_pathogenic | 0.999 | pathogenic | -1.048 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | disulfide | None | N |
| C/L | 0.8476 | likely_pathogenic | 0.8629 | pathogenic | -0.443 | Destabilizing | 0.999 | D | 0.73 | prob.delet. | None | None | disulfide | None | N |
| C/M | 0.9037 | likely_pathogenic | 0.9158 | pathogenic | -0.243 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | disulfide | None | N |
| C/N | 0.9882 | likely_pathogenic | 0.9855 | pathogenic | -1.677 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -0.721 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9974 | likely_pathogenic | 0.9968 | pathogenic | -1.159 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9944 | likely_pathogenic | 0.9927 | pathogenic | -1.537 | Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.748239726 | disulfide | None | N |
| C/S | 0.8953 | likely_pathogenic | 0.8851 | pathogenic | -1.904 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.711077181 | disulfide | None | N |
| C/T | 0.8725 | likely_pathogenic | 0.8732 | pathogenic | -1.501 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | disulfide | None | N |
| C/V | 0.6499 | likely_pathogenic | 0.7145 | pathogenic | -0.721 | Destabilizing | 0.999 | D | 0.779 | deleterious | None | None | disulfide | None | N |
| C/W | 0.9865 | likely_pathogenic | 0.9841 | pathogenic | -1.247 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.748239726 | disulfide | None | N |
| C/Y | 0.9646 | likely_pathogenic | 0.9635 | pathogenic | -0.98 | Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.747133031 | disulfide | 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.