Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34203 | 102832;102833;102834 | chr2:178534008;178534007;178534006 | chr2:179398735;179398734;179398733 |
| N2AB | 32562 | 97909;97910;97911 | chr2:178534008;178534007;178534006 | chr2:179398735;179398734;179398733 |
| N2A | 31635 | 95128;95129;95130 | chr2:178534008;178534007;178534006 | chr2:179398735;179398734;179398733 |
| N2B | 25138 | 75637;75638;75639 | chr2:178534008;178534007;178534006 | chr2:179398735;179398734;179398733 |
| Novex-1 | 25263 | 76012;76013;76014 | chr2:178534008;178534007;178534006 | chr2:179398735;179398734;179398733 |
| Novex-2 | 25330 | 76213;76214;76215 | chr2:178534008;178534007;178534006 | chr2:179398735;179398734;179398733 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | None | None | 1.0 | D | 0.793 | 0.866 | 0.63676537582 | 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 |
| D/N | rs1189437049  |
0.069 | 1.0 | D | 0.799 | 0.757 | 0.736534092445 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| D/N | rs1189437049 |
0.069 | 1.0 | D | 0.799 | 0.757 | 0.736534092445 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| D/N | rs1189437049 |
0.069 | 1.0 | D | 0.799 | 0.757 | 0.736534092445 | gnomAD-4.0.0 | 3.09822E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23773E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.963 | likely_pathogenic | 0.9715 | pathogenic | 1.37 | Stabilizing | 1.0 | D | 0.845 | deleterious | D | 0.57399093 | None | None | N |
| D/C | 0.9917 | likely_pathogenic | 0.9941 | pathogenic | 1.037 | Stabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| D/E | 0.9056 | likely_pathogenic | 0.9297 | pathogenic | -0.294 | Destabilizing | 1.0 | D | 0.596 | neutral | D | 0.572780104 | None | None | N |
| D/F | 0.9951 | likely_pathogenic | 0.9955 | pathogenic | 1.939 | Stabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| D/G | 0.9631 | likely_pathogenic | 0.9731 | pathogenic | 0.876 | Stabilizing | 1.0 | D | 0.793 | deleterious | D | 0.599730846 | None | None | N |
| D/H | 0.9509 | likely_pathogenic | 0.9616 | pathogenic | 1.502 | Stabilizing | 1.0 | D | 0.855 | deleterious | D | 0.562554141 | None | None | N |
| D/I | 0.9934 | likely_pathogenic | 0.9955 | pathogenic | 2.69 | Highly Stabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| D/K | 0.9895 | likely_pathogenic | 0.9933 | pathogenic | 0.902 | Stabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| D/L | 0.9891 | likely_pathogenic | 0.9914 | pathogenic | 2.69 | Highly Stabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| D/M | 0.9957 | likely_pathogenic | 0.9969 | pathogenic | 2.93 | Highly Stabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| D/N | 0.8831 | likely_pathogenic | 0.9093 | pathogenic | 0.004 | Stabilizing | 1.0 | D | 0.799 | deleterious | D | 0.597914607 | None | None | N |
| D/P | 0.9974 | likely_pathogenic | 0.9982 | pathogenic | 2.283 | Highly Stabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| D/Q | 0.9799 | likely_pathogenic | 0.986 | pathogenic | 0.447 | Stabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| D/R | 0.9896 | likely_pathogenic | 0.9928 | pathogenic | 0.649 | Stabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| D/S | 0.925 | likely_pathogenic | 0.9418 | pathogenic | -0.251 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| D/T | 0.9803 | likely_pathogenic | 0.9857 | pathogenic | 0.22 | Stabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| D/V | 0.9801 | likely_pathogenic | 0.9858 | pathogenic | 2.283 | Highly Stabilizing | 1.0 | D | 0.861 | deleterious | D | 0.600134454 | None | None | N |
| D/W | 0.9984 | likely_pathogenic | 0.9987 | pathogenic | 1.744 | Stabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| D/Y | 0.966 | likely_pathogenic | 0.9701 | pathogenic | 2.197 | Highly Stabilizing | 1.0 | D | 0.879 | deleterious | D | 0.59993265 | 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.