Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29937 | 90034;90035;90036 | chr2:178553091;178553090;178553089 | chr2:179417818;179417817;179417816 |
| N2AB | 28296 | 85111;85112;85113 | chr2:178553091;178553090;178553089 | chr2:179417818;179417817;179417816 |
| N2A | 27369 | 82330;82331;82332 | chr2:178553091;178553090;178553089 | chr2:179417818;179417817;179417816 |
| N2B | 20872 | 62839;62840;62841 | chr2:178553091;178553090;178553089 | chr2:179417818;179417817;179417816 |
| Novex-1 | 20997 | 63214;63215;63216 | chr2:178553091;178553090;178553089 | chr2:179417818;179417817;179417816 |
| Novex-2 | 21064 | 63415;63416;63417 | chr2:178553091;178553090;178553089 | chr2:179417818;179417817;179417816 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/F | None | None | 0.999 | N | 0.885 | 0.309 | 0.712927215454 | gnomAD-4.0.0 | 1.5985E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87439E-06 | 0 | 0 |
| C/W | None | None | 1.0 | N | 0.873 | 0.417 | 0.431602765429 | gnomAD-4.0.0 | 1.59792E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87323E-06 | 0 | 0 |
| C/Y | rs577272158  |
-1.592 | 0.999 | N | 0.881 | 0.306 | 0.68404209341 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| C/Y | rs577272158 |
-1.592 | 0.999 | N | 0.881 | 0.306 | 0.68404209341 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| C/Y | rs577272158 |
-1.592 | 0.999 | N | 0.881 | 0.306 | 0.68404209341 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| C/Y | rs577272158 |
-1.592 | 0.999 | N | 0.881 | 0.306 | 0.68404209341 | gnomAD-4.0.0 | 6.56556E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47007E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.8096 | likely_pathogenic | 0.792 | pathogenic | -1.563 | Destabilizing | 0.931 | D | 0.725 | prob.delet. | None | None | None | None | N |
| C/D | 0.9983 | likely_pathogenic | 0.9981 | pathogenic | -1.816 | Destabilizing | 0.996 | D | 0.905 | deleterious | None | None | None | None | N |
| C/E | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -1.617 | Destabilizing | 0.996 | D | 0.911 | deleterious | None | None | None | None | N |
| C/F | 0.9589 | likely_pathogenic | 0.9431 | pathogenic | -1.02 | Destabilizing | 0.999 | D | 0.885 | deleterious | N | 0.504357498 | None | None | N |
| C/G | 0.8587 | likely_pathogenic | 0.8422 | pathogenic | -1.882 | Destabilizing | 0.98 | D | 0.883 | deleterious | N | 0.474901383 | None | None | N |
| C/H | 0.9968 | likely_pathogenic | 0.9961 | pathogenic | -2.282 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| C/I | 0.8053 | likely_pathogenic | 0.7874 | pathogenic | -0.714 | Destabilizing | 0.998 | D | 0.853 | deleterious | None | None | None | None | N |
| C/K | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -1.358 | Destabilizing | 0.996 | D | 0.897 | deleterious | None | None | None | None | N |
| C/L | 0.8733 | likely_pathogenic | 0.8479 | pathogenic | -0.714 | Destabilizing | 0.993 | D | 0.797 | deleterious | None | None | None | None | N |
| C/M | 0.9662 | likely_pathogenic | 0.9616 | pathogenic | 0.089 | Stabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| C/N | 0.9883 | likely_pathogenic | 0.987 | pathogenic | -1.812 | Destabilizing | 0.996 | D | 0.912 | deleterious | None | None | None | None | N |
| C/P | 0.3294 | likely_benign | 0.3492 | ambiguous | -0.974 | Destabilizing | 0.998 | D | 0.913 | deleterious | None | None | None | None | N |
| C/Q | 0.9973 | likely_pathogenic | 0.9968 | pathogenic | -1.422 | Destabilizing | 0.998 | D | 0.907 | deleterious | None | None | None | None | N |
| C/R | 0.9941 | likely_pathogenic | 0.9932 | pathogenic | -1.702 | Destabilizing | 0.997 | D | 0.911 | deleterious | N | 0.467012618 | None | None | N |
| C/S | 0.8914 | likely_pathogenic | 0.8764 | pathogenic | -2.059 | Highly Destabilizing | 0.659 | D | 0.684 | prob.neutral | N | 0.474728025 | None | None | N |
| C/T | 0.9041 | likely_pathogenic | 0.9026 | pathogenic | -1.701 | Destabilizing | 0.971 | D | 0.812 | deleterious | None | None | None | None | N |
| C/V | 0.5743 | likely_pathogenic | 0.5685 | pathogenic | -0.974 | Destabilizing | 0.993 | D | 0.839 | deleterious | None | None | None | None | N |
| C/W | 0.996 | likely_pathogenic | 0.9944 | pathogenic | -1.505 | Destabilizing | 1.0 | D | 0.873 | deleterious | N | 0.504530857 | None | None | N |
| C/Y | 0.9922 | likely_pathogenic | 0.9885 | pathogenic | -1.264 | Destabilizing | 0.999 | D | 0.881 | deleterious | N | 0.504357498 | 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.