Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33531 | 100816;100817;100818 | chr2:178536156;178536155;178536154 | chr2:179400883;179400882;179400881 |
| N2AB | 31890 | 95893;95894;95895 | chr2:178536156;178536155;178536154 | chr2:179400883;179400882;179400881 |
| N2A | 30963 | 93112;93113;93114 | chr2:178536156;178536155;178536154 | chr2:179400883;179400882;179400881 |
| N2B | 24466 | 73621;73622;73623 | chr2:178536156;178536155;178536154 | chr2:179400883;179400882;179400881 |
| Novex-1 | 24591 | 73996;73997;73998 | chr2:178536156;178536155;178536154 | chr2:179400883;179400882;179400881 |
| Novex-2 | 24658 | 74197;74198;74199 | chr2:178536156;178536155;178536154 | chr2:179400883;179400882;179400881 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/I | rs1443902669  |
None | 0.992 | D | 0.727 | 0.571 | 0.767801976584 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/I | rs1443902669 |
None | 0.992 | D | 0.727 | 0.571 | 0.767801976584 | gnomAD-4.0.0 | 1.23952E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69531E-06 | 0 | 0 |
| R/K | rs1443902669 |
-1.504 | 0.006 | N | 0.196 | 0.146 | 0.223146558224 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| R/K | rs1443902669 |
-1.504 | 0.006 | N | 0.196 | 0.146 | 0.223146558224 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/K | rs1443902669 |
-1.504 | 0.006 | N | 0.196 | 0.146 | 0.223146558224 | gnomAD-4.0.0 | 2.47904E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39063E-06 | 0 | 0 |
| R/T | None | None | 0.976 | D | 0.555 | 0.677 | 0.714081615166 | gnomAD-4.0.0 | 6.84286E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65689E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.8977 | likely_pathogenic | 0.9133 | pathogenic | -1.888 | Destabilizing | 0.982 | D | 0.508 | neutral | None | None | None | None | N |
| R/C | 0.3206 | likely_benign | 0.3836 | ambiguous | -1.829 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| R/D | 0.9862 | likely_pathogenic | 0.9868 | pathogenic | -0.736 | Destabilizing | 0.995 | D | 0.631 | neutral | None | None | None | None | N |
| R/E | 0.8886 | likely_pathogenic | 0.9064 | pathogenic | -0.518 | Destabilizing | 0.89 | D | 0.475 | neutral | None | None | None | None | N |
| R/F | 0.9138 | likely_pathogenic | 0.9176 | pathogenic | -1.32 | Destabilizing | 0.998 | D | 0.738 | prob.delet. | None | None | None | None | N |
| R/G | 0.8798 | likely_pathogenic | 0.9 | pathogenic | -2.265 | Highly Destabilizing | 0.976 | D | 0.616 | neutral | D | 0.541977234 | None | None | N |
| R/H | 0.2173 | likely_benign | 0.2511 | benign | -2.182 | Highly Destabilizing | 0.998 | D | 0.544 | neutral | None | None | None | None | N |
| R/I | 0.716 | likely_pathogenic | 0.7372 | pathogenic | -0.808 | Destabilizing | 0.992 | D | 0.727 | prob.delet. | D | 0.540968213 | None | None | N |
| R/K | 0.1426 | likely_benign | 0.143 | benign | -1.237 | Destabilizing | 0.006 | N | 0.196 | neutral | N | 0.460759516 | None | None | N |
| R/L | 0.6403 | likely_pathogenic | 0.6829 | pathogenic | -0.808 | Destabilizing | 0.957 | D | 0.616 | neutral | None | None | None | None | N |
| R/M | 0.7697 | likely_pathogenic | 0.807 | pathogenic | -1.181 | Destabilizing | 0.999 | D | 0.656 | neutral | None | None | None | None | N |
| R/N | 0.95 | likely_pathogenic | 0.9549 | pathogenic | -1.239 | Destabilizing | 0.995 | D | 0.507 | neutral | None | None | None | None | N |
| R/P | 0.9948 | likely_pathogenic | 0.9944 | pathogenic | -1.154 | Destabilizing | 0.997 | D | 0.683 | prob.neutral | None | None | None | None | N |
| R/Q | 0.2079 | likely_benign | 0.2567 | benign | -1.203 | Destabilizing | 0.993 | D | 0.52 | neutral | None | None | None | None | N |
| R/S | 0.9202 | likely_pathogenic | 0.9344 | pathogenic | -2.242 | Highly Destabilizing | 0.976 | D | 0.549 | neutral | D | 0.553212218 | None | None | N |
| R/T | 0.8586 | likely_pathogenic | 0.8862 | pathogenic | -1.783 | Destabilizing | 0.976 | D | 0.555 | neutral | D | 0.549497584 | None | None | N |
| R/V | 0.7916 | likely_pathogenic | 0.8046 | pathogenic | -1.154 | Destabilizing | 0.991 | D | 0.703 | prob.neutral | None | None | None | None | N |
| R/W | 0.621 | likely_pathogenic | 0.6738 | pathogenic | -0.769 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| R/Y | 0.7955 | likely_pathogenic | 0.818 | pathogenic | -0.626 | Destabilizing | 0.998 | D | 0.705 | prob.neutral | 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.