Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24347 | 73264;73265;73266 | chr2:178573093;178573092;178573091 | chr2:179437820;179437819;179437818 |
| N2AB | 22706 | 68341;68342;68343 | chr2:178573093;178573092;178573091 | chr2:179437820;179437819;179437818 |
| N2A | 21779 | 65560;65561;65562 | chr2:178573093;178573092;178573091 | chr2:179437820;179437819;179437818 |
| N2B | 15282 | 46069;46070;46071 | chr2:178573093;178573092;178573091 | chr2:179437820;179437819;179437818 |
| Novex-1 | 15407 | 46444;46445;46446 | chr2:178573093;178573092;178573091 | chr2:179437820;179437819;179437818 |
| Novex-2 | 15474 | 46645;46646;46647 | chr2:178573093;178573092;178573091 | chr2:179437820;179437819;179437818 |
| 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 | rs762412998  |
-0.238 | 1.0 | D | 0.899 | 0.522 | 0.713372316176 | gnomAD-2.1.1 | 3.22E-05 | None | None | None | None | N | None | 0 | 2.32113E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs762412998 |
-0.238 | 1.0 | D | 0.899 | 0.522 | 0.713372316176 | gnomAD-4.0.0 | 9.55454E-06 | None | None | None | None | N | None | 0 | 1.37237E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | None | None | 1.0 | N | 0.86 | 0.491 | 0.411799315854 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 | 0.9421 | likely_pathogenic | 0.93 | pathogenic | -1.627 | Destabilizing | 1.0 | D | 0.837 | deleterious | N | 0.512972572 | None | None | N |
| P/C | 0.9966 | likely_pathogenic | 0.9954 | pathogenic | -0.948 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/D | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -1.658 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/E | 0.9988 | likely_pathogenic | 0.9985 | pathogenic | -1.636 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| P/F | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.212 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| P/G | 0.9935 | likely_pathogenic | 0.9923 | pathogenic | -1.971 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| P/H | 0.9985 | likely_pathogenic | 0.9982 | pathogenic | -1.636 | Destabilizing | 1.0 | D | 0.876 | deleterious | D | 0.529724155 | None | None | N |
| P/I | 0.9977 | likely_pathogenic | 0.9966 | pathogenic | -0.764 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| P/K | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -1.513 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/L | 0.9877 | likely_pathogenic | 0.9841 | pathogenic | -0.764 | Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.539977597 | None | None | N |
| P/M | 0.9981 | likely_pathogenic | 0.9972 | pathogenic | -0.527 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| P/N | 0.9986 | likely_pathogenic | 0.9982 | pathogenic | -1.226 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| P/Q | 0.9982 | likely_pathogenic | 0.9978 | pathogenic | -1.359 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/R | 0.9978 | likely_pathogenic | 0.9977 | pathogenic | -1.018 | Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.5228873 | None | None | N |
| P/S | 0.9918 | likely_pathogenic | 0.9885 | pathogenic | -1.691 | Destabilizing | 1.0 | D | 0.86 | deleterious | N | 0.490019699 | None | None | N |
| P/T | 0.9911 | likely_pathogenic | 0.9862 | pathogenic | -1.562 | Destabilizing | 1.0 | D | 0.856 | deleterious | D | 0.529470666 | None | None | N |
| P/V | 0.9912 | likely_pathogenic | 0.9868 | pathogenic | -1.018 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.461 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/Y | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.191 | Destabilizing | 1.0 | D | 0.897 | 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.