Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4721 | 14386;14387;14388 | chr2:178738292;178738291;178738290 | chr2:179603019;179603018;179603017 |
| N2AB | 4404 | 13435;13436;13437 | chr2:178738292;178738291;178738290 | chr2:179603019;179603018;179603017 |
| N2A | 3477 | 10654;10655;10656 | chr2:178738292;178738291;178738290 | chr2:179603019;179603018;179603017 |
| N2B | 4358 | 13297;13298;13299 | chr2:178738292;178738291;178738290 | chr2:179603019;179603018;179603017 |
| Novex-1 | 4483 | 13672;13673;13674 | chr2:178738292;178738291;178738290 | chr2:179603019;179603018;179603017 |
| Novex-2 | 4550 | 13873;13874;13875 | chr2:178738292;178738291;178738290 | chr2:179603019;179603018;179603017 |
| 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/S | rs760530704  |
-1.631 | 1.0 | N | 0.836 | 0.7 | 0.785099988397 | gnomAD-2.1.1 | 4.03E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| C/S | rs760530704 |
-1.631 | 1.0 | N | 0.836 | 0.7 | 0.785099988397 | gnomAD-3.1.2 | 6.57E-06 | None | None | disulfide | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| C/S | rs760530704 |
-1.631 | 1.0 | N | 0.836 | 0.7 | 0.785099988397 | gnomAD-4.0.0 | 2.73743E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 2.5264E-05 | None | 0 | 0 | 0 | 3.47915E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7314 | likely_pathogenic | 0.8061 | pathogenic | -1.644 | Destabilizing | 0.998 | D | 0.707 | prob.neutral | None | None | disulfide | None | N |
| C/D | 0.9984 | likely_pathogenic | 0.998 | pathogenic | -1.563 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -1.327 | Destabilizing | 1.0 | D | 0.924 | deleterious | None | None | disulfide | None | N |
| C/F | 0.8255 | likely_pathogenic | 0.7984 | pathogenic | -1.054 | Destabilizing | 1.0 | D | 0.909 | deleterious | N | 0.471695292 | disulfide | None | N |
| C/G | 0.7158 | likely_pathogenic | 0.7563 | pathogenic | -1.976 | Destabilizing | 1.0 | D | 0.899 | deleterious | N | 0.471695292 | disulfide | None | N |
| C/H | 0.9936 | likely_pathogenic | 0.9923 | pathogenic | -2.184 | Highly Destabilizing | 1.0 | D | 0.924 | deleterious | None | None | disulfide | None | N |
| C/I | 0.8545 | likely_pathogenic | 0.8679 | pathogenic | -0.744 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9992 | likely_pathogenic | 0.9989 | pathogenic | -1.112 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | disulfide | None | N |
| C/L | 0.8224 | likely_pathogenic | 0.8238 | pathogenic | -0.744 | Destabilizing | 0.999 | D | 0.775 | deleterious | None | None | disulfide | None | N |
| C/M | 0.917 | likely_pathogenic | 0.9131 | pathogenic | -0.417 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | disulfide | None | N |
| C/N | 0.9899 | likely_pathogenic | 0.9891 | pathogenic | -1.647 | Destabilizing | 1.0 | D | 0.922 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9985 | likely_pathogenic | 0.9985 | pathogenic | -1.024 | Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9958 | likely_pathogenic | 0.9955 | pathogenic | -1.183 | Destabilizing | 1.0 | D | 0.938 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9907 | likely_pathogenic | 0.9887 | pathogenic | -1.554 | Destabilizing | 1.0 | D | 0.927 | deleterious | N | 0.472154861 | disulfide | None | N |
| C/S | 0.7864 | likely_pathogenic | 0.8586 | pathogenic | -1.936 | Destabilizing | 1.0 | D | 0.836 | deleterious | N | 0.388467375 | disulfide | None | N |
| C/T | 0.8439 | likely_pathogenic | 0.8699 | pathogenic | -1.53 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | disulfide | None | N |
| C/V | 0.6712 | likely_pathogenic | 0.7032 | pathogenic | -1.024 | Destabilizing | 0.999 | D | 0.803 | deleterious | None | None | disulfide | None | N |
| C/W | 0.976 | likely_pathogenic | 0.9737 | pathogenic | -1.478 | Destabilizing | 1.0 | D | 0.914 | deleterious | N | 0.472154861 | disulfide | None | N |
| C/Y | 0.9589 | likely_pathogenic | 0.953 | pathogenic | -1.244 | Destabilizing | 1.0 | D | 0.923 | deleterious | N | 0.471695292 | 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.