Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32044 | 96355;96356;96357 | chr2:178544014;178544013;178544012 | chr2:179408741;179408740;179408739 |
| N2AB | 30403 | 91432;91433;91434 | chr2:178544014;178544013;178544012 | chr2:179408741;179408740;179408739 |
| N2A | 29476 | 88651;88652;88653 | chr2:178544014;178544013;178544012 | chr2:179408741;179408740;179408739 |
| N2B | 22979 | 69160;69161;69162 | chr2:178544014;178544013;178544012 | chr2:179408741;179408740;179408739 |
| Novex-1 | 23104 | 69535;69536;69537 | chr2:178544014;178544013;178544012 | chr2:179408741;179408740;179408739 |
| Novex-2 | 23171 | 69736;69737;69738 | chr2:178544014;178544013;178544012 | chr2:179408741;179408740;179408739 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | None | None | 1.0 | D | 0.841 | 0.718 | 0.808182242251 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 7.32654E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.6097 | likely_pathogenic | 0.497 | ambiguous | -1.46 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.543943838 | None | None | N |
| P/C | 0.9525 | likely_pathogenic | 0.9337 | pathogenic | -0.965 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| P/D | 0.9985 | likely_pathogenic | 0.998 | pathogenic | -1.321 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| P/E | 0.9945 | likely_pathogenic | 0.9922 | pathogenic | -1.356 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| P/F | 0.9967 | likely_pathogenic | 0.9948 | pathogenic | -1.315 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| P/G | 0.9798 | likely_pathogenic | 0.9698 | pathogenic | -1.741 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| P/H | 0.9904 | likely_pathogenic | 0.9854 | pathogenic | -1.374 | Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.592042086 | None | None | N |
| P/I | 0.9522 | likely_pathogenic | 0.9351 | pathogenic | -0.8 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/K | 0.9951 | likely_pathogenic | 0.9938 | pathogenic | -1.157 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| P/L | 0.8895 | likely_pathogenic | 0.8411 | pathogenic | -0.8 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.57561599 | None | None | N |
| P/M | 0.9758 | likely_pathogenic | 0.9649 | pathogenic | -0.565 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| P/N | 0.9969 | likely_pathogenic | 0.9955 | pathogenic | -0.888 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| P/Q | 0.9841 | likely_pathogenic | 0.9766 | pathogenic | -1.114 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| P/R | 0.9853 | likely_pathogenic | 0.98 | pathogenic | -0.641 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.591535107 | None | None | N |
| P/S | 0.9469 | likely_pathogenic | 0.9117 | pathogenic | -1.366 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.561567568 | None | None | N |
| P/T | 0.9189 | likely_pathogenic | 0.8794 | pathogenic | -1.297 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.579671823 | None | None | N |
| P/V | 0.8788 | likely_pathogenic | 0.8366 | pathogenic | -0.985 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| P/W | 0.9992 | likely_pathogenic | 0.9987 | pathogenic | -1.469 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| P/Y | 0.9973 | likely_pathogenic | 0.9958 | pathogenic | -1.181 | Destabilizing | 1.0 | D | 0.814 | 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.