Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9967 | 30124;30125;30126 | chr2:178704573;178704572;178704571 | chr2:179569300;179569299;179569298 |
| N2AB | 9650 | 29173;29174;29175 | chr2:178704573;178704572;178704571 | chr2:179569300;179569299;179569298 |
| N2A | 8723 | 26392;26393;26394 | chr2:178704573;178704572;178704571 | chr2:179569300;179569299;179569298 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | rs777682199  |
-0.953 | 1.0 | None | 0.801 | 0.779 | 0.804573646758 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| D/N | rs777682199 |
-0.953 | 1.0 | None | 0.801 | 0.779 | 0.804573646758 | gnomAD-4.0.0 | 1.59193E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43476E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9913 | likely_pathogenic | 0.991 | pathogenic | 0.269 | Stabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| D/C | 0.9967 | likely_pathogenic | 0.9973 | pathogenic | 0.097 | Stabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| D/E | 0.9413 | likely_pathogenic | 0.9445 | pathogenic | -0.867 | Destabilizing | 1.0 | D | 0.595 | neutral | None | None | None | None | N |
| D/F | 0.996 | likely_pathogenic | 0.9964 | pathogenic | 0.91 | Stabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| D/G | 0.9897 | likely_pathogenic | 0.9895 | pathogenic | -0.204 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| D/H | 0.9711 | likely_pathogenic | 0.977 | pathogenic | 0.393 | Stabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| D/I | 0.9978 | likely_pathogenic | 0.9974 | pathogenic | 1.544 | Stabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| D/K | 0.9969 | likely_pathogenic | 0.9971 | pathogenic | -0.326 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| D/L | 0.9941 | likely_pathogenic | 0.9942 | pathogenic | 1.544 | Stabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| D/M | 0.9975 | likely_pathogenic | 0.9978 | pathogenic | 1.972 | Stabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| D/N | 0.9169 | likely_pathogenic | 0.9283 | pathogenic | -1.026 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| D/P | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | 1.149 | Stabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| D/Q | 0.9916 | likely_pathogenic | 0.9932 | pathogenic | -0.665 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| D/R | 0.9979 | likely_pathogenic | 0.998 | pathogenic | -0.293 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| D/S | 0.9793 | likely_pathogenic | 0.9807 | pathogenic | -1.317 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| D/T | 0.996 | likely_pathogenic | 0.9958 | pathogenic | -0.896 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| D/V | 0.992 | likely_pathogenic | 0.991 | pathogenic | 1.149 | Stabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| D/W | 0.999 | likely_pathogenic | 0.999 | pathogenic | 0.864 | Stabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| D/Y | 0.9571 | likely_pathogenic | 0.9599 | pathogenic | 1.111 | Stabilizing | 1.0 | D | 0.855 | 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.