Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28679 | 86260;86261;86262 | chr2:178560097;178560096;178560095 | chr2:179424824;179424823;179424822 |
| N2AB | 27038 | 81337;81338;81339 | chr2:178560097;178560096;178560095 | chr2:179424824;179424823;179424822 |
| N2A | 26111 | 78556;78557;78558 | chr2:178560097;178560096;178560095 | chr2:179424824;179424823;179424822 |
| N2B | 19614 | 59065;59066;59067 | chr2:178560097;178560096;178560095 | chr2:179424824;179424823;179424822 |
| Novex-1 | 19739 | 59440;59441;59442 | chr2:178560097;178560096;178560095 | chr2:179424824;179424823;179424822 |
| Novex-2 | 19806 | 59641;59642;59643 | chr2:178560097;178560096;178560095 | chr2:179424824;179424823;179424822 |
| 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/D | rs776831920  |
-0.629 | 1.0 | N | 0.831 | 0.559 | 0.35139820857 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/D | rs776831920 |
-0.629 | 1.0 | N | 0.831 | 0.559 | 0.35139820857 | gnomAD-4.0.0 | 4.10542E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49734E-06 | 1.15937E-05 | 0 |
| G/S | rs1447086553 |
-0.928 | 1.0 | N | 0.807 | 0.448 | 0.308278614506 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.959 | likely_pathogenic | 0.9435 | pathogenic | -0.346 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | N | 0.51003283 | None | None | I |
| G/C | 0.9875 | likely_pathogenic | 0.9815 | pathogenic | -0.747 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.540760838 | None | None | I |
| G/D | 0.9975 | likely_pathogenic | 0.9963 | pathogenic | -0.533 | Destabilizing | 1.0 | D | 0.831 | deleterious | N | 0.493143116 | None | None | I |
| G/E | 0.9981 | likely_pathogenic | 0.9975 | pathogenic | -0.682 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/F | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -0.977 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/H | 0.9985 | likely_pathogenic | 0.9974 | pathogenic | -0.65 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| G/I | 0.9987 | likely_pathogenic | 0.9983 | pathogenic | -0.378 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/K | 0.9977 | likely_pathogenic | 0.9973 | pathogenic | -0.867 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | I |
| G/L | 0.9982 | likely_pathogenic | 0.9976 | pathogenic | -0.378 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/M | 0.9989 | likely_pathogenic | 0.9984 | pathogenic | -0.38 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/N | 0.9957 | likely_pathogenic | 0.9927 | pathogenic | -0.459 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| G/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -0.331 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/Q | 0.9973 | likely_pathogenic | 0.9962 | pathogenic | -0.732 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/R | 0.9916 | likely_pathogenic | 0.9896 | pathogenic | -0.424 | Destabilizing | 1.0 | D | 0.836 | deleterious | N | 0.491421596 | None | None | I |
| G/S | 0.9412 | likely_pathogenic | 0.912 | pathogenic | -0.634 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.502435506 | None | None | I |
| G/T | 0.9946 | likely_pathogenic | 0.9911 | pathogenic | -0.71 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | I |
| G/V | 0.9973 | likely_pathogenic | 0.996 | pathogenic | -0.331 | Destabilizing | 1.0 | D | 0.82 | deleterious | N | 0.514009303 | None | None | I |
| G/W | 0.9973 | likely_pathogenic | 0.9969 | pathogenic | -1.173 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/Y | 0.9984 | likely_pathogenic | 0.9976 | pathogenic | -0.808 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
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.