Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16500 | 49723;49724;49725 | chr2:178613785;178613784;178613783 | chr2:179478512;179478511;179478510 |
| N2AB | 14859 | 44800;44801;44802 | chr2:178613785;178613784;178613783 | chr2:179478512;179478511;179478510 |
| N2A | 13932 | 42019;42020;42021 | chr2:178613785;178613784;178613783 | chr2:179478512;179478511;179478510 |
| N2B | 7435 | 22528;22529;22530 | chr2:178613785;178613784;178613783 | chr2:179478512;179478511;179478510 |
| Novex-1 | 7560 | 22903;22904;22905 | chr2:178613785;178613784;178613783 | chr2:179478512;179478511;179478510 |
| Novex-2 | 7627 | 23104;23105;23106 | chr2:178613785;178613784;178613783 | chr2:179478512;179478511;179478510 |
| 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/Y | None | None | 1.0 | N | 0.825 | 0.433 | 0.730763679516 | gnomAD-4.0.0 | 2.05418E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.7002E-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 | 0.8273 | likely_pathogenic | 0.5945 | pathogenic | -1.741 | Destabilizing | 0.998 | D | 0.517 | neutral | None | None | None | None | N |
| C/D | 0.9927 | likely_pathogenic | 0.9797 | pathogenic | -0.184 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| C/E | 0.993 | likely_pathogenic | 0.9825 | pathogenic | -0.057 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| C/F | 0.8524 | likely_pathogenic | 0.7705 | pathogenic | -1.053 | Destabilizing | 1.0 | D | 0.824 | deleterious | N | 0.459233283 | None | None | N |
| C/G | 0.7923 | likely_pathogenic | 0.6532 | pathogenic | -2.06 | Highly Destabilizing | 1.0 | D | 0.778 | deleterious | D | 0.529151742 | None | None | N |
| C/H | 0.9653 | likely_pathogenic | 0.9391 | pathogenic | -1.886 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| C/I | 0.8737 | likely_pathogenic | 0.6904 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| C/K | 0.9977 | likely_pathogenic | 0.9959 | pathogenic | -0.884 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| C/L | 0.8789 | likely_pathogenic | 0.7646 | pathogenic | -0.911 | Destabilizing | 0.999 | D | 0.537 | neutral | None | None | None | None | N |
| C/M | 0.9293 | likely_pathogenic | 0.8434 | pathogenic | 0.084 | Stabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| C/N | 0.9526 | likely_pathogenic | 0.8886 | pathogenic | -1.007 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| C/P | 0.9968 | likely_pathogenic | 0.9922 | pathogenic | -1.162 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| C/Q | 0.9807 | likely_pathogenic | 0.9599 | pathogenic | -0.817 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| C/R | 0.9854 | likely_pathogenic | 0.9825 | pathogenic | -0.792 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.56635192 | None | None | N |
| C/S | 0.7722 | likely_pathogenic | 0.5696 | pathogenic | -1.571 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | N | 0.476197985 | None | None | N |
| C/T | 0.8803 | likely_pathogenic | 0.7211 | pathogenic | -1.249 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| C/V | 0.7451 | likely_pathogenic | 0.5105 | ambiguous | -1.162 | Destabilizing | 0.999 | D | 0.621 | neutral | None | None | None | None | N |
| C/W | 0.9613 | likely_pathogenic | 0.9462 | pathogenic | -1.048 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.636069094 | None | None | N |
| C/Y | 0.9262 | likely_pathogenic | 0.88 | pathogenic | -1.04 | Destabilizing | 1.0 | D | 0.825 | deleterious | N | 0.509877393 | 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.