Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14038 | 42337;42338;42339 | chr2:178634762;178634761;178634760 | chr2:179499489;179499488;179499487 |
| N2AB | 12397 | 37414;37415;37416 | chr2:178634762;178634761;178634760 | chr2:179499489;179499488;179499487 |
| N2A | 11470 | 34633;34634;34635 | chr2:178634762;178634761;178634760 | chr2:179499489;179499488;179499487 |
| N2B | 4973 | 15142;15143;15144 | chr2:178634762;178634761;178634760 | chr2:179499489;179499488;179499487 |
| Novex-1 | 5098 | 15517;15518;15519 | chr2:178634762;178634761;178634760 | chr2:179499489;179499488;179499487 |
| Novex-2 | 5165 | 15718;15719;15720 | chr2:178634762;178634761;178634760 | chr2:179499489;179499488;179499487 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs2060216548  |
None | 1.0 | N | 0.78 | 0.462 | 0.310147130316 | gnomAD-4.0.0 | 3.42228E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49864E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8755 | likely_pathogenic | 0.8321 | pathogenic | -0.774 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| A/D | 0.9892 | likely_pathogenic | 0.9828 | pathogenic | -1.967 | Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.569266855 | None | None | N |
| A/E | 0.9882 | likely_pathogenic | 0.9828 | pathogenic | -1.814 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| A/F | 0.975 | likely_pathogenic | 0.9673 | pathogenic | -0.66 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/G | 0.5483 | ambiguous | 0.4137 | ambiguous | -1.338 | Destabilizing | 0.999 | D | 0.611 | neutral | D | 0.568602736 | None | None | N |
| A/H | 0.9886 | likely_pathogenic | 0.9853 | pathogenic | -1.896 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| A/I | 0.9665 | likely_pathogenic | 0.939 | pathogenic | 0.222 | Stabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| A/K | 0.9976 | likely_pathogenic | 0.9963 | pathogenic | -1.179 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| A/L | 0.9018 | likely_pathogenic | 0.8682 | pathogenic | 0.222 | Stabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| A/M | 0.9605 | likely_pathogenic | 0.9377 | pathogenic | 0.129 | Stabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| A/N | 0.9782 | likely_pathogenic | 0.9645 | pathogenic | -1.298 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| A/P | 0.9916 | likely_pathogenic | 0.9872 | pathogenic | -0.109 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.568769849 | None | None | N |
| A/Q | 0.9853 | likely_pathogenic | 0.9793 | pathogenic | -1.164 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| A/R | 0.9902 | likely_pathogenic | 0.9877 | pathogenic | -1.213 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| A/S | 0.4671 | ambiguous | 0.3254 | benign | -1.672 | Destabilizing | 0.999 | D | 0.651 | prob.neutral | N | 0.502481994 | None | None | N |
| A/T | 0.826 | likely_pathogenic | 0.667 | pathogenic | -1.405 | Destabilizing | 1.0 | D | 0.78 | deleterious | N | 0.501914381 | None | None | N |
| A/V | 0.8462 | likely_pathogenic | 0.7352 | pathogenic | -0.109 | Destabilizing | 0.999 | D | 0.685 | prob.delet. | N | 0.434115206 | None | None | N |
| A/W | 0.9981 | likely_pathogenic | 0.9972 | pathogenic | -1.443 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| A/Y | 0.9878 | likely_pathogenic | 0.9848 | pathogenic | -0.851 | Destabilizing | 1.0 | D | 0.875 | 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.