Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5429 | 16510;16511;16512 | chr2:178732891;178732890;178732889 | chr2:179597618;179597617;179597616 |
| N2AB | 5112 | 15559;15560;15561 | chr2:178732891;178732890;178732889 | chr2:179597618;179597617;179597616 |
| N2A | 4185 | 12778;12779;12780 | chr2:178732891;178732890;178732889 | chr2:179597618;179597617;179597616 |
| 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 | None | None | 1.0 | D | 0.884 | 0.516 | 0.854936444189 | gnomAD-4.0.0 | 1.59259E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02663E-05 |
| C/Y | None | None | 1.0 | D | 0.897 | 0.516 | 0.810734245384 | gnomAD-4.0.0 | 1.59259E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85966E-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 | 0.907 | likely_pathogenic | 0.9122 | pathogenic | -1.672 | Destabilizing | 0.998 | D | 0.725 | prob.delet. | None | None | disulfide | None | N |
| C/D | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -1.462 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.22 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | disulfide | None | N |
| C/F | 0.9127 | likely_pathogenic | 0.9024 | pathogenic | -1.083 | Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.561535936 | disulfide | None | N |
| C/G | 0.8864 | likely_pathogenic | 0.8927 | pathogenic | -2.026 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.563056873 | disulfide | None | N |
| C/H | 0.9988 | likely_pathogenic | 0.9988 | pathogenic | -2.227 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | disulfide | None | N |
| C/I | 0.8942 | likely_pathogenic | 0.9172 | pathogenic | -0.71 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -0.981 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | disulfide | None | N |
| C/L | 0.8304 | likely_pathogenic | 0.8606 | pathogenic | -0.71 | Destabilizing | 0.999 | D | 0.759 | deleterious | None | None | disulfide | None | N |
| C/M | 0.968 | likely_pathogenic | 0.971 | pathogenic | -0.147 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | disulfide | None | N |
| C/N | 0.9987 | likely_pathogenic | 0.9987 | pathogenic | -1.574 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -1.009 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -1.102 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9975 | likely_pathogenic | 0.9978 | pathogenic | -1.451 | Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.563056873 | disulfide | None | N |
| C/S | 0.9709 | likely_pathogenic | 0.9714 | pathogenic | -1.882 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.563056873 | disulfide | None | N |
| C/T | 0.9836 | likely_pathogenic | 0.9847 | pathogenic | -1.453 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | disulfide | None | N |
| C/V | 0.7841 | likely_pathogenic | 0.8061 | pathogenic | -1.009 | Destabilizing | 0.999 | D | 0.774 | deleterious | None | None | disulfide | None | N |
| C/W | 0.995 | likely_pathogenic | 0.9947 | pathogenic | -1.468 | Destabilizing | 1.0 | D | 0.862 | deleterious | D | 0.563056873 | disulfide | None | N |
| C/Y | 0.9885 | likely_pathogenic | 0.9846 | pathogenic | -1.25 | Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.563056873 | 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.