Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5003 | 15232;15233;15234 | chr2:178734917;178734916;178734915 | chr2:179599644;179599643;179599642 |
| N2AB | 4686 | 14281;14282;14283 | chr2:178734917;178734916;178734915 | chr2:179599644;179599643;179599642 |
| N2A | 3759 | 11500;11501;11502 | chr2:178734917;178734916;178734915 | chr2:179599644;179599643;179599642 |
| 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/W | None | None | 1.0 | D | 0.906 | 0.615 | 0.725098580597 | gnomAD-4.0.0 | 1.36977E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 2.52985E-05 | None | 0 | 0 | 9.00067E-07 | 0 | 0 |
| C/Y | rs374015538  |
-1.681 | 1.0 | D | 0.922 | 0.74 | None | gnomAD-2.1.1 | 2.04E-05 | None | None | disulfide | None | N | None | 1.30617E-04 | 0 | None | 0 | 1.1443E-04 | None | 0 | None | 0 | 0 | 1.68577E-04 |
| C/Y | rs374015538 |
-1.681 | 1.0 | D | 0.922 | 0.74 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | disulfide | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/Y | rs374015538 |
-1.681 | 1.0 | D | 0.922 | 0.74 | None | gnomAD-4.0.0 | 6.41802E-06 | None | None | disulfide | None | N | None | 1.69165E-05 | 0 | None | 0 | 4.86784E-05 | None | 0 | 0 | 2.39743E-06 | 0 | 2.8503E-05 |
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 | 0.925 | likely_pathogenic | 0.9173 | pathogenic | -2.023 | Highly Destabilizing | 0.998 | D | 0.735 | prob.delet. | None | None | disulfide | None | N |
| C/D | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -2.027 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.795 | Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | disulfide | None | N |
| C/F | 0.8936 | likely_pathogenic | 0.909 | pathogenic | -1.239 | Destabilizing | 1.0 | D | 0.911 | deleterious | D | 0.781364368 | disulfide | None | N |
| C/G | 0.7938 | likely_pathogenic | 0.7721 | pathogenic | -2.373 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | D | 0.642377464 | disulfide | None | N |
| C/H | 0.9976 | likely_pathogenic | 0.9973 | pathogenic | -2.427 | Highly Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | disulfide | None | N |
| C/I | 0.9407 | likely_pathogenic | 0.9413 | pathogenic | -1.057 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.848 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | disulfide | None | N |
| C/L | 0.9165 | likely_pathogenic | 0.918 | pathogenic | -1.057 | Destabilizing | 0.999 | D | 0.779 | deleterious | None | None | disulfide | None | N |
| C/M | 0.9735 | likely_pathogenic | 0.9767 | pathogenic | -0.055 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | disulfide | None | N |
| C/N | 0.9977 | likely_pathogenic | 0.9971 | pathogenic | -2.435 | Highly Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -1.36 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9985 | likely_pathogenic | 0.9983 | pathogenic | -1.977 | Destabilizing | 1.0 | D | 0.934 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9961 | likely_pathogenic | 0.9955 | pathogenic | -2.061 | Highly Destabilizing | 1.0 | D | 0.926 | deleterious | D | 0.782493994 | disulfide | None | N |
| C/S | 0.9497 | likely_pathogenic | 0.9365 | pathogenic | -2.774 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.726775058 | disulfide | None | N |
| C/T | 0.971 | likely_pathogenic | 0.9641 | pathogenic | -2.375 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | disulfide | None | N |
| C/V | 0.878 | likely_pathogenic | 0.8737 | pathogenic | -1.36 | Destabilizing | 0.999 | D | 0.81 | deleterious | None | None | disulfide | None | N |
| C/W | 0.9914 | likely_pathogenic | 0.9904 | pathogenic | -1.637 | Destabilizing | 1.0 | D | 0.906 | deleterious | D | 0.782493994 | disulfide | None | N |
| C/Y | 0.9801 | likely_pathogenic | 0.9798 | pathogenic | -1.516 | Destabilizing | 1.0 | D | 0.922 | deleterious | D | 0.726775058 | 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.