Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25141 | 75646;75647;75648 | chr2:178570711;178570710;178570709 | chr2:179435438;179435437;179435436 |
| N2AB | 23500 | 70723;70724;70725 | chr2:178570711;178570710;178570709 | chr2:179435438;179435437;179435436 |
| N2A | 22573 | 67942;67943;67944 | chr2:178570711;178570710;178570709 | chr2:179435438;179435437;179435436 |
| N2B | 16076 | 48451;48452;48453 | chr2:178570711;178570710;178570709 | chr2:179435438;179435437;179435436 |
| Novex-1 | 16201 | 48826;48827;48828 | chr2:178570711;178570710;178570709 | chr2:179435438;179435437;179435436 |
| Novex-2 | 16268 | 49027;49028;49029 | chr2:178570711;178570710;178570709 | chr2:179435438;179435437;179435436 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/T | None | None | 1.0 | D | 0.858 | 0.757 | 0.621358419865 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.8406 | likely_pathogenic | 0.8576 | pathogenic | -1.493 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.548716778 | None | None | N |
| P/C | 0.9864 | likely_pathogenic | 0.9901 | pathogenic | -1.062 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| P/D | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -1.485 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| P/E | 0.9976 | likely_pathogenic | 0.9982 | pathogenic | -1.509 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/F | 0.9988 | likely_pathogenic | 0.9993 | pathogenic | -1.329 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| P/G | 0.991 | likely_pathogenic | 0.993 | pathogenic | -1.78 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| P/H | 0.9963 | likely_pathogenic | 0.9974 | pathogenic | -1.394 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| P/I | 0.9773 | likely_pathogenic | 0.9861 | pathogenic | -0.81 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| P/K | 0.9985 | likely_pathogenic | 0.9989 | pathogenic | -1.157 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/L | 0.9313 | likely_pathogenic | 0.9472 | pathogenic | -0.81 | Destabilizing | 1.0 | D | 0.862 | deleterious | D | 0.545167925 | None | None | N |
| P/M | 0.9918 | likely_pathogenic | 0.9945 | pathogenic | -0.612 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| P/N | 0.9986 | likely_pathogenic | 0.9989 | pathogenic | -0.937 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/Q | 0.9935 | likely_pathogenic | 0.9951 | pathogenic | -1.167 | Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.576228782 | None | None | N |
| P/R | 0.9937 | likely_pathogenic | 0.9953 | pathogenic | -0.654 | Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.576228782 | None | None | N |
| P/S | 0.9807 | likely_pathogenic | 0.9835 | pathogenic | -1.421 | Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.575721803 | None | None | N |
| P/T | 0.9684 | likely_pathogenic | 0.9753 | pathogenic | -1.343 | Destabilizing | 1.0 | D | 0.858 | deleterious | D | 0.575721803 | None | None | N |
| P/V | 0.953 | likely_pathogenic | 0.967 | pathogenic | -1.004 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/W | 0.9996 | likely_pathogenic | 0.9998 | pathogenic | -1.488 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| P/Y | 0.9991 | likely_pathogenic | 0.9994 | pathogenic | -1.19 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | 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.