Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6271 | 19036;19037;19038 | chr2:178729345;178729344;178729343 | chr2:179594072;179594071;179594070 |
| N2AB | 5954 | 18085;18086;18087 | chr2:178729345;178729344;178729343 | chr2:179594072;179594071;179594070 |
| N2A | 5027 | 15304;15305;15306 | chr2:178729345;178729344;178729343 | chr2:179594072;179594071;179594070 |
| 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 | rs2079970402  |
None | 1.0 | D | 0.882 | 0.782 | 0.878498160798 | gnomAD-4.0.0 | 1.59192E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85964E-06 | 0 | 0 |
| C/Y | None | None | 1.0 | D | 0.909 | 0.708 | 0.817822398108 | gnomAD-4.0.0 | 1.59205E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.41896E-04 | 0 | 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 | 0.9073 | likely_pathogenic | 0.8625 | pathogenic | -1.488 | Destabilizing | 0.998 | D | 0.714 | prob.delet. | None | None | disulfide | None | N |
| C/D | 0.9993 | likely_pathogenic | 0.9985 | pathogenic | -1.521 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9995 | likely_pathogenic | 0.9991 | pathogenic | -1.256 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | disulfide | None | N |
| C/F | 0.8215 | likely_pathogenic | 0.7728 | pathogenic | -0.913 | Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.558573421 | disulfide | None | N |
| C/G | 0.8136 | likely_pathogenic | 0.7012 | pathogenic | -1.856 | Destabilizing | 1.0 | D | 0.882 | deleterious | D | 0.560094358 | disulfide | None | N |
| C/H | 0.997 | likely_pathogenic | 0.9951 | pathogenic | -2.078 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | disulfide | None | N |
| C/I | 0.8289 | likely_pathogenic | 0.8213 | pathogenic | -0.48 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9995 | likely_pathogenic | 0.9992 | pathogenic | -0.848 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | disulfide | None | N |
| C/L | 0.7637 | likely_pathogenic | 0.7322 | pathogenic | -0.48 | Destabilizing | 0.999 | D | 0.765 | deleterious | None | None | disulfide | None | N |
| C/M | 0.9177 | likely_pathogenic | 0.9059 | pathogenic | 0.006 | Stabilizing | 1.0 | D | 0.837 | deleterious | None | None | disulfide | None | N |
| C/N | 0.9949 | likely_pathogenic | 0.9911 | pathogenic | -1.593 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9993 | likely_pathogenic | 0.9987 | pathogenic | -0.795 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9984 | likely_pathogenic | 0.9971 | pathogenic | -1.039 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9952 | likely_pathogenic | 0.9913 | pathogenic | -1.429 | Destabilizing | 1.0 | D | 0.91 | deleterious | D | 0.560094358 | disulfide | None | N |
| C/S | 0.967 | likely_pathogenic | 0.9409 | pathogenic | -1.835 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.541990103 | disulfide | None | N |
| C/T | 0.9695 | likely_pathogenic | 0.9608 | pathogenic | -1.379 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | disulfide | None | N |
| C/V | 0.7052 | likely_pathogenic | 0.7217 | pathogenic | -0.795 | Destabilizing | 0.999 | D | 0.785 | deleterious | None | None | disulfide | None | N |
| C/W | 0.9879 | likely_pathogenic | 0.979 | pathogenic | -1.356 | Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.560094358 | disulfide | None | N |
| C/Y | 0.9609 | likely_pathogenic | 0.9359 | pathogenic | -1.108 | Destabilizing | 1.0 | D | 0.909 | deleterious | D | 0.560094358 | 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.