Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9373 | 28342;28343;28344 | chr2:178711119;178711118;178711117 | chr2:179575846;179575845;179575844 |
| N2AB | 9056 | 27391;27392;27393 | chr2:178711119;178711118;178711117 | chr2:179575846;179575845;179575844 |
| N2A | 8129 | 24610;24611;24612 | chr2:178711119;178711118;178711117 | chr2:179575846;179575845;179575844 |
| 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/G | rs758050033  |
-2.356 | 1.0 | None | 0.875 | 0.76 | 0.875584493258 | gnomAD-2.1.1 | 4.02E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| C/G | rs758050033 |
-2.356 | 1.0 | None | 0.875 | 0.76 | 0.875584493258 | 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/G | rs758050033 |
-2.356 | 1.0 | None | 0.875 | 0.76 | 0.875584493258 | gnomAD-4.0.0 | 4.95756E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.78104E-06 | 0 | 0 |
| C/R | rs758050033 |
-0.729 | 1.0 | None | 0.905 | 0.781 | 0.870106137535 | gnomAD-2.1.1 | 4.02E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| C/R | rs758050033 |
-0.729 | 1.0 | None | 0.905 | 0.781 | 0.870106137535 | gnomAD-4.0.0 | 6.84244E-07 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15966E-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 | 0.9292 | likely_pathogenic | 0.9167 | pathogenic | -1.607 | Destabilizing | 0.998 | D | 0.719 | prob.delet. | None | None | disulfide | None | N |
| C/D | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -0.882 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.662 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | disulfide | None | N |
| C/F | 0.8386 | likely_pathogenic | 0.8368 | pathogenic | -1.178 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | disulfide | None | N |
| C/G | 0.9192 | likely_pathogenic | 0.8994 | pathogenic | -1.951 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | disulfide | None | N |
| C/H | 0.998 | likely_pathogenic | 0.9984 | pathogenic | -2.166 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | disulfide | None | N |
| C/I | 0.8148 | likely_pathogenic | 0.8359 | pathogenic | -0.683 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -0.498 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | disulfide | None | N |
| C/L | 0.761 | likely_pathogenic | 0.7731 | pathogenic | -0.683 | Destabilizing | 0.999 | D | 0.769 | deleterious | None | None | disulfide | None | N |
| C/M | 0.9488 | likely_pathogenic | 0.9482 | pathogenic | -0.114 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | disulfide | None | N |
| C/N | 0.9979 | likely_pathogenic | 0.9981 | pathogenic | -1.021 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -0.969 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9989 | likely_pathogenic | 0.9992 | pathogenic | -0.619 | Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9957 | likely_pathogenic | 0.9972 | pathogenic | -0.998 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | disulfide | None | N |
| C/S | 0.9741 | likely_pathogenic | 0.9696 | pathogenic | -1.379 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | disulfide | None | N |
| C/T | 0.9796 | likely_pathogenic | 0.9789 | pathogenic | -0.959 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | disulfide | None | N |
| C/V | 0.7196 | likely_pathogenic | 0.7392 | pathogenic | -0.969 | Destabilizing | 0.999 | D | 0.792 | deleterious | None | None | disulfide | None | N |
| C/W | 0.9935 | likely_pathogenic | 0.9946 | pathogenic | -1.427 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | disulfide | None | N |
| C/Y | 0.982 | likely_pathogenic | 0.9829 | pathogenic | -1.223 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | 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.