Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30276 | 91051;91052;91053 | chr2:178552074;178552073;178552072 | chr2:179416801;179416800;179416799 |
| N2AB | 28635 | 86128;86129;86130 | chr2:178552074;178552073;178552072 | chr2:179416801;179416800;179416799 |
| N2A | 27708 | 83347;83348;83349 | chr2:178552074;178552073;178552072 | chr2:179416801;179416800;179416799 |
| N2B | 21211 | 63856;63857;63858 | chr2:178552074;178552073;178552072 | chr2:179416801;179416800;179416799 |
| Novex-1 | 21336 | 64231;64232;64233 | chr2:178552074;178552073;178552072 | chr2:179416801;179416800;179416799 |
| Novex-2 | 21403 | 64432;64433;64434 | chr2:178552074;178552073;178552072 | chr2:179416801;179416800;179416799 |
| 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/G | rs150430592  |
-2.019 | 1.0 | N | 0.775 | 0.478 | None | gnomAD-2.1.1 | 3.27766E-03 | None | None | None | None | N | None | 1.24008E-04 | 7.36043E-04 | None | 1.06342E-03 | 0 | None | 2.08783E-02 | None | 4.01E-05 | 1.70201E-03 | 2.94861E-03 |
| C/G | rs150430592 |
-2.019 | 1.0 | N | 0.775 | 0.478 | None | gnomAD-3.1.2 | 1.72869E-03 | None | None | None | None | N | None | 1.68984E-04 | 1.70358E-03 | 0 | 8.64055E-04 | 0 | None | 0 | 0 | 1.66113E-03 | 2.30004E-02 | 1.43403E-03 |
| C/G | rs150430592 |
-2.019 | 1.0 | N | 0.775 | 0.478 | None | 1000 genomes | 5.99042E-03 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 2E-03 | None | None | None | 2.76E-02 | None |
| C/G | rs150430592 |
-2.019 | 1.0 | N | 0.775 | 0.478 | None | gnomAD-4.0.0 | 2.10694E-03 | None | None | None | None | N | None | 2.26624E-04 | 9.33333E-04 | None | 8.44538E-04 | 4.45851E-05 | None | 6.2498E-05 | 3.96301E-03 | 1.05531E-03 | 2.04416E-02 | 2.65685E-03 |
| C/S | None | None | 1.0 | N | 0.747 | 0.488 | 0.649823028507 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7317 | likely_pathogenic | 0.6525 | pathogenic | -1.761 | Destabilizing | 0.998 | D | 0.599 | neutral | None | None | None | None | N |
| C/D | 0.9878 | likely_pathogenic | 0.9812 | pathogenic | 0.204 | Stabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| C/E | 0.9958 | likely_pathogenic | 0.9934 | pathogenic | 0.293 | Stabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| C/F | 0.7933 | likely_pathogenic | 0.7198 | pathogenic | -1.358 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.516766648 | None | None | N |
| C/G | 0.5513 | ambiguous | 0.482 | ambiguous | -2.035 | Highly Destabilizing | 1.0 | D | 0.775 | deleterious | N | 0.464857748 | None | None | N |
| C/H | 0.9601 | likely_pathogenic | 0.9384 | pathogenic | -1.96 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| C/I | 0.9461 | likely_pathogenic | 0.9079 | pathogenic | -1.067 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| C/K | 0.9967 | likely_pathogenic | 0.9943 | pathogenic | -0.498 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| C/L | 0.8697 | likely_pathogenic | 0.8092 | pathogenic | -1.067 | Destabilizing | 0.999 | D | 0.612 | neutral | None | None | None | None | N |
| C/M | 0.9251 | likely_pathogenic | 0.8858 | pathogenic | -0.374 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| C/N | 0.8853 | likely_pathogenic | 0.84 | pathogenic | -0.53 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| C/P | 0.9963 | likely_pathogenic | 0.9941 | pathogenic | -1.274 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| C/Q | 0.9778 | likely_pathogenic | 0.9653 | pathogenic | -0.42 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| C/R | 0.976 | likely_pathogenic | 0.9621 | pathogenic | -0.434 | Destabilizing | 1.0 | D | 0.827 | deleterious | N | 0.503066632 | None | None | N |
| C/S | 0.5663 | likely_pathogenic | 0.4871 | ambiguous | -1.114 | Destabilizing | 1.0 | D | 0.747 | deleterious | N | 0.361709163 | None | None | N |
| C/T | 0.7911 | likely_pathogenic | 0.7069 | pathogenic | -0.828 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| C/V | 0.8577 | likely_pathogenic | 0.7905 | pathogenic | -1.274 | Destabilizing | 0.999 | D | 0.675 | prob.neutral | None | None | None | None | N |
| C/W | 0.9665 | likely_pathogenic | 0.954 | pathogenic | -1.254 | Destabilizing | 1.0 | D | 0.791 | deleterious | N | 0.487142408 | None | None | N |
| C/Y | 0.9094 | likely_pathogenic | 0.8695 | pathogenic | -1.234 | Destabilizing | 1.0 | D | 0.809 | deleterious | N | 0.470148924 | 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.