Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21240 | 63943;63944;63945 | chr2:178587591;178587590;178587589 | chr2:179452318;179452317;179452316 |
| N2AB | 19599 | 59020;59021;59022 | chr2:178587591;178587590;178587589 | chr2:179452318;179452317;179452316 |
| N2A | 18672 | 56239;56240;56241 | chr2:178587591;178587590;178587589 | chr2:179452318;179452317;179452316 |
| N2B | 12175 | 36748;36749;36750 | chr2:178587591;178587590;178587589 | chr2:179452318;179452317;179452316 |
| Novex-1 | 12300 | 37123;37124;37125 | chr2:178587591;178587590;178587589 | chr2:179452318;179452317;179452316 |
| Novex-2 | 12367 | 37324;37325;37326 | chr2:178587591;178587590;178587589 | chr2:179452318;179452317;179452316 |
| 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 | rs1031557327  |
None | 1.0 | D | 0.774 | 0.707 | 0.686399706189 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/N | rs1031557327 |
None | 1.0 | D | 0.774 | 0.707 | 0.686399706189 | gnomAD-4.0.0 | 2.56637E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.79136E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9766 | likely_pathogenic | 0.9823 | pathogenic | -0.179 | Destabilizing | 1.0 | D | 0.824 | deleterious | D | 0.649444441 | None | None | N |
| D/C | 0.9863 | likely_pathogenic | 0.9896 | pathogenic | 0.028 | Stabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| D/E | 0.9332 | likely_pathogenic | 0.9483 | pathogenic | -0.689 | Destabilizing | 1.0 | D | 0.595 | neutral | D | 0.632214255 | None | None | N |
| D/F | 0.9949 | likely_pathogenic | 0.9962 | pathogenic | 0.425 | Stabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| D/G | 0.9832 | likely_pathogenic | 0.9877 | pathogenic | -0.607 | Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.665665607 | None | None | N |
| D/H | 0.9459 | likely_pathogenic | 0.9551 | pathogenic | 0.101 | Stabilizing | 1.0 | D | 0.794 | deleterious | D | 0.600164815 | None | None | N |
| D/I | 0.9922 | likely_pathogenic | 0.9949 | pathogenic | 0.972 | Stabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| D/K | 0.9942 | likely_pathogenic | 0.9955 | pathogenic | 0.135 | Stabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| D/L | 0.9925 | likely_pathogenic | 0.9943 | pathogenic | 0.972 | Stabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| D/M | 0.996 | likely_pathogenic | 0.9972 | pathogenic | 1.427 | Stabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| D/N | 0.8479 | likely_pathogenic | 0.8771 | pathogenic | -0.685 | Destabilizing | 1.0 | D | 0.774 | deleterious | D | 0.626470859 | None | None | N |
| D/P | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | 0.616 | Stabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| D/Q | 0.9863 | likely_pathogenic | 0.9897 | pathogenic | -0.419 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| D/R | 0.9945 | likely_pathogenic | 0.9958 | pathogenic | 0.169 | Stabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| D/S | 0.9365 | likely_pathogenic | 0.9548 | pathogenic | -0.937 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| D/T | 0.9865 | likely_pathogenic | 0.9914 | pathogenic | -0.536 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| D/V | 0.9814 | likely_pathogenic | 0.9866 | pathogenic | 0.616 | Stabilizing | 1.0 | D | 0.812 | deleterious | D | 0.666069215 | None | None | N |
| D/W | 0.9991 | likely_pathogenic | 0.9994 | pathogenic | 0.613 | Stabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| D/Y | 0.9628 | likely_pathogenic | 0.9701 | pathogenic | 0.728 | Stabilizing | 1.0 | D | 0.818 | deleterious | D | 0.665867411 | 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.