Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33577 | 100954;100955;100956 | chr2:178536018;178536017;178536016 | chr2:179400745;179400744;179400743 |
| N2AB | 31936 | 96031;96032;96033 | chr2:178536018;178536017;178536016 | chr2:179400745;179400744;179400743 |
| N2A | 31009 | 93250;93251;93252 | chr2:178536018;178536017;178536016 | chr2:179400745;179400744;179400743 |
| N2B | 24512 | 73759;73760;73761 | chr2:178536018;178536017;178536016 | chr2:179400745;179400744;179400743 |
| Novex-1 | 24637 | 74134;74135;74136 | chr2:178536018;178536017;178536016 | chr2:179400745;179400744;179400743 |
| Novex-2 | 24704 | 74335;74336;74337 | chr2:178536018;178536017;178536016 | chr2:179400745;179400744;179400743 |
| 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 | None | None | 0.999 | D | 0.759 | 0.795 | 0.678929657206 | gnomAD-4.0.0 | 4.27469E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.53618E-06 | 0 | 0 |
| G/E | rs1266341288  |
None | 1.0 | D | 0.841 | 0.76 | 0.803714294873 | gnomAD-4.0.0 | 7.12449E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.22696E-07 | 0 | 0 |
| G/V | rs1266341288 |
-0.135 | 1.0 | D | 0.841 | 0.806 | 0.873585393695 | gnomAD-2.1.1 | 4.84E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 2.06101E-04 |
| G/V | rs1266341288 |
-0.135 | 1.0 | D | 0.841 | 0.806 | 0.873585393695 | gnomAD-4.0.0 | 2.84979E-06 | None | None | None | None | I | None | 3.16536E-05 | 2.69107E-05 | None | 0 | 0 | None | 0 | 0 | 9.22696E-07 | 0 | 1.73172E-05 |
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 | 0.9044 | likely_pathogenic | 0.864 | pathogenic | -0.306 | Destabilizing | 0.999 | D | 0.759 | deleterious | D | 0.597237755 | None | None | I |
| G/C | 0.9719 | likely_pathogenic | 0.9446 | pathogenic | -0.896 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/D | 0.9855 | likely_pathogenic | 0.966 | pathogenic | -0.49 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| G/E | 0.9892 | likely_pathogenic | 0.9752 | pathogenic | -0.659 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.591231835 | None | None | I |
| G/F | 0.9929 | likely_pathogenic | 0.988 | pathogenic | -1.078 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | I |
| G/H | 0.9952 | likely_pathogenic | 0.9899 | pathogenic | -0.511 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/I | 0.991 | likely_pathogenic | 0.9828 | pathogenic | -0.502 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | I |
| G/K | 0.9938 | likely_pathogenic | 0.9866 | pathogenic | -0.71 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | I |
| G/L | 0.993 | likely_pathogenic | 0.9879 | pathogenic | -0.502 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/M | 0.995 | likely_pathogenic | 0.9924 | pathogenic | -0.488 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| G/N | 0.9836 | likely_pathogenic | 0.9675 | pathogenic | -0.401 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | I |
| G/P | 0.9995 | likely_pathogenic | 0.9989 | pathogenic | -0.406 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | I |
| G/Q | 0.9888 | likely_pathogenic | 0.9781 | pathogenic | -0.697 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/R | 0.9835 | likely_pathogenic | 0.9669 | pathogenic | -0.278 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.626661945 | None | None | I |
| G/S | 0.8632 | likely_pathogenic | 0.8022 | pathogenic | -0.548 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/T | 0.9778 | likely_pathogenic | 0.9596 | pathogenic | -0.649 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/V | 0.9854 | likely_pathogenic | 0.9711 | pathogenic | -0.406 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.643488523 | None | None | I |
| G/W | 0.994 | likely_pathogenic | 0.9886 | pathogenic | -1.201 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | I |
| G/Y | 0.9928 | likely_pathogenic | 0.9861 | pathogenic | -0.86 | Destabilizing | 1.0 | D | 0.846 | 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.