Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33409 | 100450;100451;100452 | chr2:178536522;178536521;178536520 | chr2:179401249;179401248;179401247 |
| N2AB | 31768 | 95527;95528;95529 | chr2:178536522;178536521;178536520 | chr2:179401249;179401248;179401247 |
| N2A | 30841 | 92746;92747;92748 | chr2:178536522;178536521;178536520 | chr2:179401249;179401248;179401247 |
| N2B | 24344 | 73255;73256;73257 | chr2:178536522;178536521;178536520 | chr2:179401249;179401248;179401247 |
| Novex-1 | 24469 | 73630;73631;73632 | chr2:178536522;178536521;178536520 | chr2:179401249;179401248;179401247 |
| Novex-2 | 24536 | 73831;73832;73833 | chr2:178536522;178536521;178536520 | chr2:179401249;179401248;179401247 |
| 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/S | None | None | 0.959 | N | 0.795 | 0.511 | 0.651948777851 | 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/S | None | None | 0.959 | N | 0.795 | 0.511 | 0.651948777851 | gnomAD-4.0.0 | 6.5703E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46964E-05 | 0 | 0 |
| C/Y | rs201112096  |
-1.659 | 0.953 | N | 0.791 | 0.359 | None | gnomAD-2.1.1 | 1.25694E-04 | None | None | None | None | N | None | 4.28E-05 | 0 | None | 2.14684E-03 | 0 | None | 6.42E-05 | None | 4.95E-05 | 1.33782E-04 | 0 |
| C/Y | rs201112096 |
-1.659 | 0.953 | N | 0.791 | 0.359 | None | gnomAD-3.1.2 | 1.11695E-04 | None | None | None | None | N | None | 0 | 0 | 0 | 1.72811E-03 | 0 | None | 0 | 0 | 1.17571E-04 | 2.06868E-04 | 9.56023E-04 |
| C/Y | rs201112096 |
-1.659 | 0.953 | N | 0.791 | 0.359 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| C/Y | rs201112096 |
-1.659 | 0.953 | N | 0.791 | 0.359 | None | gnomAD-4.0.0 | 7.88803E-05 | None | None | None | None | N | None | 0 | 2.09547E-05 | None | 1.71289E-03 | 0 | None | 0 | 1.06007E-03 | 4.36932E-05 | 3.97825E-05 | 3.21587E-04 |
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 | 0.5401 | ambiguous | 0.4968 | ambiguous | -1.46 | Destabilizing | 0.863 | D | 0.599 | neutral | None | None | None | None | N |
| C/D | 0.9974 | likely_pathogenic | 0.9983 | pathogenic | -0.805 | Destabilizing | 0.997 | D | 0.813 | deleterious | None | None | None | None | N |
| C/E | 0.9983 | likely_pathogenic | 0.999 | pathogenic | -0.586 | Destabilizing | 0.997 | D | 0.813 | deleterious | None | None | None | None | N |
| C/F | 0.6485 | likely_pathogenic | 0.6835 | pathogenic | -1.053 | Destabilizing | 0.077 | N | 0.592 | neutral | N | 0.478554977 | None | None | N |
| C/G | 0.5553 | ambiguous | 0.5449 | ambiguous | -1.817 | Destabilizing | 0.996 | D | 0.777 | deleterious | N | 0.482507599 | None | None | N |
| C/H | 0.9908 | likely_pathogenic | 0.9934 | pathogenic | -2.138 | Highly Destabilizing | 0.999 | D | 0.794 | deleterious | None | None | None | None | N |
| C/I | 0.68 | likely_pathogenic | 0.6487 | pathogenic | -0.51 | Destabilizing | 0.884 | D | 0.754 | deleterious | None | None | None | None | N |
| C/K | 0.9989 | likely_pathogenic | 0.9993 | pathogenic | -0.497 | Destabilizing | 0.997 | D | 0.805 | deleterious | None | None | None | None | N |
| C/L | 0.7011 | likely_pathogenic | 0.6914 | pathogenic | -0.51 | Destabilizing | 0.759 | D | 0.678 | prob.neutral | None | None | None | None | N |
| C/M | 0.8514 | likely_pathogenic | 0.8486 | pathogenic | -0.034 | Destabilizing | 0.991 | D | 0.797 | deleterious | None | None | None | None | N |
| C/N | 0.9877 | likely_pathogenic | 0.9897 | pathogenic | -1.043 | Destabilizing | 0.997 | D | 0.81 | deleterious | None | None | None | None | N |
| C/P | 0.9984 | likely_pathogenic | 0.9991 | pathogenic | -0.801 | Destabilizing | 0.997 | D | 0.816 | deleterious | None | None | None | None | N |
| C/Q | 0.9939 | likely_pathogenic | 0.9957 | pathogenic | -0.629 | Destabilizing | 0.997 | D | 0.817 | deleterious | None | None | None | None | N |
| C/R | 0.9898 | likely_pathogenic | 0.9936 | pathogenic | -0.994 | Destabilizing | 0.996 | D | 0.813 | deleterious | N | 0.483521557 | None | None | N |
| C/S | 0.7134 | likely_pathogenic | 0.6906 | pathogenic | -1.392 | Destabilizing | 0.959 | D | 0.795 | deleterious | N | 0.483014578 | None | None | N |
| C/T | 0.8047 | likely_pathogenic | 0.7715 | pathogenic | -0.96 | Destabilizing | 0.939 | D | 0.787 | deleterious | None | None | None | None | N |
| C/V | 0.5017 | ambiguous | 0.4448 | ambiguous | -0.801 | Destabilizing | 0.17 | N | 0.545 | neutral | None | None | None | None | N |
| C/W | 0.9728 | likely_pathogenic | 0.9807 | pathogenic | -1.323 | Destabilizing | 0.999 | D | 0.773 | deleterious | N | 0.472165252 | None | None | N |
| C/Y | 0.9026 | likely_pathogenic | 0.9319 | pathogenic | -1.095 | Destabilizing | 0.953 | D | 0.791 | deleterious | N | 0.51118747 | 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.