Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25778 | 77557;77558;77559 | chr2:178568800;178568799;178568798 | chr2:179433527;179433526;179433525 |
| N2AB | 24137 | 72634;72635;72636 | chr2:178568800;178568799;178568798 | chr2:179433527;179433526;179433525 |
| N2A | 23210 | 69853;69854;69855 | chr2:178568800;178568799;178568798 | chr2:179433527;179433526;179433525 |
| N2B | 16713 | 50362;50363;50364 | chr2:178568800;178568799;178568798 | chr2:179433527;179433526;179433525 |
| Novex-1 | 16838 | 50737;50738;50739 | chr2:178568800;178568799;178568798 | chr2:179433527;179433526;179433525 |
| Novex-2 | 16905 | 50938;50939;50940 | chr2:178568800;178568799;178568798 | chr2:179433527;179433526;179433525 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs1264868756  |
-0.673 | 1.0 | D | 0.92 | 0.776 | 0.825756635601 | gnomAD-2.1.1 | 7.17E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
| G/R | rs1264868756 |
-0.673 | 1.0 | D | 0.92 | 0.776 | 0.825756635601 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/R | rs1264868756 |
-0.673 | 1.0 | D | 0.92 | 0.776 | 0.825756635601 | gnomAD-4.0.0 | 6.84443E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99643E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8566 | likely_pathogenic | 0.8714 | pathogenic | -0.586 | Destabilizing | 1.0 | D | 0.759 | deleterious | D | 0.553162733 | None | None | I |
| G/C | 0.9637 | likely_pathogenic | 0.9664 | pathogenic | -0.963 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
| G/D | 0.9573 | likely_pathogenic | 0.9644 | pathogenic | -0.91 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | I |
| G/E | 0.9751 | likely_pathogenic | 0.976 | pathogenic | -1.042 | Destabilizing | 1.0 | D | 0.909 | deleterious | D | 0.553162733 | None | None | I |
| G/F | 0.9932 | likely_pathogenic | 0.9929 | pathogenic | -1.087 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | I |
| G/H | 0.9931 | likely_pathogenic | 0.9934 | pathogenic | -0.918 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | I |
| G/I | 0.9906 | likely_pathogenic | 0.9905 | pathogenic | -0.53 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | I |
| G/K | 0.9905 | likely_pathogenic | 0.9907 | pathogenic | -1.221 | Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | I |
| G/L | 0.9889 | likely_pathogenic | 0.9881 | pathogenic | -0.53 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | I |
| G/M | 0.9905 | likely_pathogenic | 0.9912 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | I |
| G/N | 0.9712 | likely_pathogenic | 0.9724 | pathogenic | -0.855 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| G/P | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -0.511 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | I |
| G/Q | 0.9804 | likely_pathogenic | 0.98 | pathogenic | -1.129 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | I |
| G/R | 0.9823 | likely_pathogenic | 0.9823 | pathogenic | -0.741 | Destabilizing | 1.0 | D | 0.92 | deleterious | D | 0.548643283 | None | None | I |
| G/S | 0.8383 | likely_pathogenic | 0.8381 | pathogenic | -1.033 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| G/T | 0.9681 | likely_pathogenic | 0.9679 | pathogenic | -1.097 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | I |
| G/V | 0.9805 | likely_pathogenic | 0.9799 | pathogenic | -0.511 | Destabilizing | 1.0 | D | 0.892 | deleterious | D | 0.539680061 | None | None | I |
| G/W | 0.9903 | likely_pathogenic | 0.9911 | pathogenic | -1.292 | Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.572534436 | None | None | I |
| G/Y | 0.9864 | likely_pathogenic | 0.9863 | pathogenic | -0.953 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | I |
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.