Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4867 | 14824;14825;14826 | chr2:178735847;178735846;178735845 | chr2:179600574;179600573;179600572 |
| N2AB | 4550 | 13873;13874;13875 | chr2:178735847;178735846;178735845 | chr2:179600574;179600573;179600572 |
| N2A | 3623 | 11092;11093;11094 | chr2:178735847;178735846;178735845 | chr2:179600574;179600573;179600572 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/F | rs2081352465  |
None | 1.0 | D | 0.887 | 0.676 | 0.851595499224 | gnomAD-4.0.0 | 3.18258E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71615E-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 | 0.8138 | likely_pathogenic | 0.7808 | pathogenic | -1.713 | Destabilizing | 0.998 | D | 0.725 | prob.delet. | None | None | disulfide | None | N |
| C/D | 0.9987 | likely_pathogenic | 0.9984 | pathogenic | -1.478 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9987 | likely_pathogenic | 0.9985 | pathogenic | -1.24 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | disulfide | None | N |
| C/F | 0.7812 | likely_pathogenic | 0.7495 | pathogenic | -1.018 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.781319746 | disulfide | None | N |
| C/G | 0.708 | likely_pathogenic | 0.6667 | pathogenic | -2.081 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.783992476 | disulfide | None | N |
| C/H | 0.9914 | likely_pathogenic | 0.9896 | pathogenic | -2.228 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | disulfide | None | N |
| C/I | 0.7849 | likely_pathogenic | 0.7713 | pathogenic | -0.708 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9988 | likely_pathogenic | 0.9987 | pathogenic | -1.159 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | disulfide | None | N |
| C/L | 0.6953 | likely_pathogenic | 0.6693 | pathogenic | -0.708 | Destabilizing | 0.999 | D | 0.77 | deleterious | None | None | disulfide | None | N |
| C/M | 0.9177 | likely_pathogenic | 0.9029 | pathogenic | 0.289 | Stabilizing | 1.0 | D | 0.832 | deleterious | None | None | disulfide | None | N |
| C/N | 0.9895 | likely_pathogenic | 0.9868 | pathogenic | -1.772 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9977 | likely_pathogenic | 0.9974 | pathogenic | -1.021 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9942 | likely_pathogenic | 0.9927 | pathogenic | -1.296 | Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9853 | likely_pathogenic | 0.9841 | pathogenic | -1.547 | Destabilizing | 1.0 | D | 0.903 | deleterious | D | 0.783992476 | disulfide | None | N |
| C/S | 0.8846 | likely_pathogenic | 0.8658 | pathogenic | -2.093 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.750512016 | disulfide | None | N |
| C/T | 0.9402 | likely_pathogenic | 0.9301 | pathogenic | -1.667 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | disulfide | None | N |
| C/V | 0.6602 | likely_pathogenic | 0.6351 | pathogenic | -1.021 | Destabilizing | 0.999 | D | 0.792 | deleterious | None | None | disulfide | None | N |
| C/W | 0.9755 | likely_pathogenic | 0.9739 | pathogenic | -1.391 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.783992476 | disulfide | None | N |
| C/Y | 0.9365 | likely_pathogenic | 0.9282 | pathogenic | -1.219 | Destabilizing | 1.0 | D | 0.898 | deleterious | D | 0.783992476 | 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.