Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33026 | 99301;99302;99303 | chr2:178538753;178538752;178538751 | chr2:179403480;179403479;179403478 |
| N2AB | 31385 | 94378;94379;94380 | chr2:178538753;178538752;178538751 | chr2:179403480;179403479;179403478 |
| N2A | 30458 | 91597;91598;91599 | chr2:178538753;178538752;178538751 | chr2:179403480;179403479;179403478 |
| N2B | 23961 | 72106;72107;72108 | chr2:178538753;178538752;178538751 | chr2:179403480;179403479;179403478 |
| Novex-1 | 24086 | 72481;72482;72483 | chr2:178538753;178538752;178538751 | chr2:179403480;179403479;179403478 |
| Novex-2 | 24153 | 72682;72683;72684 | chr2:178538753;178538752;178538751 | chr2:179403480;179403479;179403478 |
| 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/A | rs761864497  |
-0.356 | 1.0 | N | 0.727 | 0.496 | 0.362160248664 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.56E-05 | None | 0 | None | 0 | 0 | 0 |
| G/A | rs761864497 |
-0.356 | 1.0 | N | 0.727 | 0.496 | 0.362160248664 | gnomAD-4.0.0 | 1.59146E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.773E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs548099841 |
-0.376 | 1.0 | N | 0.842 | 0.481 | 0.598605756512 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs548099841 |
-0.376 | 1.0 | N | 0.842 | 0.481 | 0.598605756512 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.9253E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs548099841 |
-0.376 | 1.0 | N | 0.842 | 0.481 | 0.598605756512 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| G/R | rs548099841 |
-0.376 | 1.0 | N | 0.842 | 0.481 | 0.598605756512 | gnomAD-4.0.0 | 6.56694E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.92976E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs548099841 |
None | 1.0 | N | 0.803 | 0.494 | 0.344710718752 | gnomAD-4.0.0 | 1.59144E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8586E-06 | 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 | 0.8182 | likely_pathogenic | 0.8357 | pathogenic | -0.213 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | N | 0.51957871 | None | None | I |
| G/C | 0.958 | likely_pathogenic | 0.958 | pathogenic | -0.721 | Destabilizing | 1.0 | D | 0.792 | deleterious | D | 0.552940064 | None | None | I |
| G/D | 0.9884 | likely_pathogenic | 0.9872 | pathogenic | -0.724 | Destabilizing | 1.0 | D | 0.842 | deleterious | N | 0.511411955 | None | None | I |
| G/E | 0.9925 | likely_pathogenic | 0.9917 | pathogenic | -0.899 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/F | 0.9958 | likely_pathogenic | 0.9954 | pathogenic | -1.036 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/H | 0.9932 | likely_pathogenic | 0.9932 | pathogenic | -0.511 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/I | 0.9956 | likely_pathogenic | 0.9947 | pathogenic | -0.385 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| G/K | 0.9944 | likely_pathogenic | 0.9933 | pathogenic | -0.773 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| G/L | 0.9929 | likely_pathogenic | 0.9928 | pathogenic | -0.385 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/M | 0.9963 | likely_pathogenic | 0.9962 | pathogenic | -0.367 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/N | 0.9783 | likely_pathogenic | 0.9812 | pathogenic | -0.324 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| G/P | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -0.295 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/Q | 0.9905 | likely_pathogenic | 0.9902 | pathogenic | -0.651 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | I |
| G/R | 0.9789 | likely_pathogenic | 0.9755 | pathogenic | -0.296 | Destabilizing | 1.0 | D | 0.842 | deleterious | N | 0.504588327 | None | None | I |
| G/S | 0.7711 | likely_pathogenic | 0.7968 | pathogenic | -0.422 | Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.509677208 | None | None | I |
| G/T | 0.9756 | likely_pathogenic | 0.9757 | pathogenic | -0.537 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/V | 0.9905 | likely_pathogenic | 0.989 | pathogenic | -0.295 | Destabilizing | 1.0 | D | 0.818 | deleterious | N | 0.516478065 | None | None | I |
| G/W | 0.9921 | likely_pathogenic | 0.9904 | pathogenic | -1.191 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/Y | 0.9934 | likely_pathogenic | 0.9928 | pathogenic | -0.836 | Destabilizing | 1.0 | D | 0.787 | 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.