Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27740 | 83443;83444;83445 | chr2:178562914;178562913;178562912 | chr2:179427641;179427640;179427639 |
| N2AB | 26099 | 78520;78521;78522 | chr2:178562914;178562913;178562912 | chr2:179427641;179427640;179427639 |
| N2A | 25172 | 75739;75740;75741 | chr2:178562914;178562913;178562912 | chr2:179427641;179427640;179427639 |
| N2B | 18675 | 56248;56249;56250 | chr2:178562914;178562913;178562912 | chr2:179427641;179427640;179427639 |
| Novex-1 | 18800 | 56623;56624;56625 | chr2:178562914;178562913;178562912 | chr2:179427641;179427640;179427639 |
| Novex-2 | 18867 | 56824;56825;56826 | chr2:178562914;178562913;178562912 | chr2:179427641;179427640;179427639 |
| 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/E | rs1364251085  |
None | 1.0 | D | 0.615 | 0.777 | 0.569844293628 | gnomAD-4.0.0 | 1.59192E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85886E-06 | 0 | 0 |
| D/N | rs776130801 |
-0.755 | 1.0 | D | 0.789 | 0.616 | 0.657750020267 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/N | rs776130801 |
-0.755 | 1.0 | D | 0.789 | 0.616 | 0.657750020267 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs776130801 |
-0.755 | 1.0 | D | 0.789 | 0.616 | 0.657750020267 | gnomAD-4.0.0 | 6.57471E-06 | None | None | None | None | N | None | 2.41348E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.9806 | likely_pathogenic | 0.9812 | pathogenic | 0.073 | Stabilizing | 1.0 | D | 0.857 | deleterious | D | 0.657570204 | None | None | N |
| D/C | 0.9845 | likely_pathogenic | 0.9839 | pathogenic | 0.223 | Stabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| D/E | 0.9267 | likely_pathogenic | 0.931 | pathogenic | -0.587 | Destabilizing | 1.0 | D | 0.615 | neutral | D | 0.640340018 | None | None | N |
| D/F | 0.9958 | likely_pathogenic | 0.9962 | pathogenic | 0.674 | Stabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| D/G | 0.9858 | likely_pathogenic | 0.9856 | pathogenic | -0.393 | Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.657772009 | None | None | N |
| D/H | 0.8952 | likely_pathogenic | 0.9048 | pathogenic | 0.329 | Stabilizing | 1.0 | D | 0.831 | deleterious | D | 0.609683565 | None | None | N |
| D/I | 0.9953 | likely_pathogenic | 0.9955 | pathogenic | 1.331 | Stabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| D/K | 0.9955 | likely_pathogenic | 0.9959 | pathogenic | 0.186 | Stabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| D/L | 0.9924 | likely_pathogenic | 0.993 | pathogenic | 1.331 | Stabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| D/M | 0.9975 | likely_pathogenic | 0.9975 | pathogenic | 1.799 | Stabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| D/N | 0.8656 | likely_pathogenic | 0.8699 | pathogenic | -0.626 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.614398298 | None | None | N |
| D/P | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | 0.941 | Stabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| D/Q | 0.9807 | likely_pathogenic | 0.9808 | pathogenic | -0.302 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| D/R | 0.9953 | likely_pathogenic | 0.9956 | pathogenic | 0.158 | Stabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| D/S | 0.9303 | likely_pathogenic | 0.9294 | pathogenic | -0.942 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| D/T | 0.9899 | likely_pathogenic | 0.9906 | pathogenic | -0.506 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| D/V | 0.9884 | likely_pathogenic | 0.9888 | pathogenic | 0.941 | Stabilizing | 1.0 | D | 0.853 | deleterious | D | 0.658175617 | None | None | N |
| D/W | 0.999 | likely_pathogenic | 0.999 | pathogenic | 0.764 | Stabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| D/Y | 0.9687 | likely_pathogenic | 0.9706 | pathogenic | 0.969 | Stabilizing | 1.0 | D | 0.865 | deleterious | D | 0.657973813 | 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.