Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31476 | 94651;94652;94653 | chr2:178547099;178547098;178547097 | chr2:179411826;179411825;179411824 |
| N2AB | 29835 | 89728;89729;89730 | chr2:178547099;178547098;178547097 | chr2:179411826;179411825;179411824 |
| N2A | 28908 | 86947;86948;86949 | chr2:178547099;178547098;178547097 | chr2:179411826;179411825;179411824 |
| N2B | 22411 | 67456;67457;67458 | chr2:178547099;178547098;178547097 | chr2:179411826;179411825;179411824 |
| Novex-1 | 22536 | 67831;67832;67833 | chr2:178547099;178547098;178547097 | chr2:179411826;179411825;179411824 |
| Novex-2 | 22603 | 68032;68033;68034 | chr2:178547099;178547098;178547097 | chr2:179411826;179411825;179411824 |
| 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 | rs1481659337  |
-0.427 | 1.0 | N | 0.848 | 0.659 | 0.794042446464 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| G/R | rs1481659337 |
-0.427 | 1.0 | N | 0.848 | 0.659 | 0.794042446464 | gnomAD-4.0.0 | 1.5913E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85848E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7953 | likely_pathogenic | 0.8326 | pathogenic | -0.649 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | N | 0.492838218 | None | None | N |
| G/C | 0.8651 | likely_pathogenic | 0.8895 | pathogenic | -0.897 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| G/D | 0.8704 | likely_pathogenic | 0.9084 | pathogenic | -1.283 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| G/E | 0.9345 | likely_pathogenic | 0.9586 | pathogenic | -1.403 | Destabilizing | 1.0 | D | 0.855 | deleterious | N | 0.50485286 | None | None | N |
| G/F | 0.9749 | likely_pathogenic | 0.9828 | pathogenic | -1.129 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| G/H | 0.9539 | likely_pathogenic | 0.9689 | pathogenic | -1.061 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/I | 0.9793 | likely_pathogenic | 0.9853 | pathogenic | -0.523 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| G/K | 0.9791 | likely_pathogenic | 0.9866 | pathogenic | -1.381 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| G/L | 0.9691 | likely_pathogenic | 0.9764 | pathogenic | -0.523 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/M | 0.9675 | likely_pathogenic | 0.9761 | pathogenic | -0.419 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| G/N | 0.7524 | likely_pathogenic | 0.8065 | pathogenic | -0.96 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| G/P | 0.9984 | likely_pathogenic | 0.9987 | pathogenic | -0.528 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| G/Q | 0.9456 | likely_pathogenic | 0.963 | pathogenic | -1.244 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/R | 0.9635 | likely_pathogenic | 0.9755 | pathogenic | -0.851 | Destabilizing | 1.0 | D | 0.848 | deleterious | N | 0.513184198 | None | None | N |
| G/S | 0.5515 | ambiguous | 0.6353 | pathogenic | -1.098 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| G/T | 0.8905 | likely_pathogenic | 0.9161 | pathogenic | -1.158 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| G/V | 0.9556 | likely_pathogenic | 0.9684 | pathogenic | -0.528 | Destabilizing | 1.0 | D | 0.842 | deleterious | D | 0.527769734 | None | None | N |
| G/W | 0.9626 | likely_pathogenic | 0.9744 | pathogenic | -1.376 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/Y | 0.9448 | likely_pathogenic | 0.961 | pathogenic | -1.035 | Destabilizing | 1.0 | D | 0.813 | 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.