Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4820 | 14683;14684;14685 | chr2:178735988;178735987;178735986 | chr2:179600715;179600714;179600713 |
| N2AB | 4503 | 13732;13733;13734 | chr2:178735988;178735987;178735986 | chr2:179600715;179600714;179600713 |
| N2A | 3576 | 10951;10952;10953 | chr2:178735988;178735987;178735986 | chr2:179600715;179600714;179600713 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/E | rs376364888  |
-0.599 | 1.0 | D | 0.795 | 0.758 | None | gnomAD-2.1.1 | 1.78E-05 | None | None | None | None | I | None | 0 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 3.12E-05 | 0 |
| G/E | rs376364888 |
-0.599 | 1.0 | D | 0.795 | 0.758 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 4.77555E-04 |
| G/E | rs376364888 |
-0.599 | 1.0 | D | 0.795 | 0.758 | None | gnomAD-4.0.0 | 1.30145E-05 | None | None | None | None | I | None | 0 | 1.66756E-05 | None | 3.37838E-05 | 0 | None | 0 | 1.64528E-04 | 1.18669E-05 | 0 | 6.40451E-05 |
| G/R | rs1247947470 |
None | 1.0 | D | 0.795 | 0.781 | 0.899262121513 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/R | rs1247947470 |
None | 1.0 | D | 0.795 | 0.781 | 0.899262121513 | gnomAD-4.0.0 | 2.73695E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59796E-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 | 0.6456 | likely_pathogenic | 0.5598 | ambiguous | -0.381 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.628056521 | None | None | I |
| G/C | 0.9569 | likely_pathogenic | 0.9383 | pathogenic | -0.817 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | I |
| G/D | 0.9823 | likely_pathogenic | 0.9815 | pathogenic | -0.804 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/E | 0.9868 | likely_pathogenic | 0.9849 | pathogenic | -0.958 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.787683221 | None | None | I |
| G/F | 0.996 | likely_pathogenic | 0.9953 | pathogenic | -1.075 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| G/H | 0.9961 | likely_pathogenic | 0.9952 | pathogenic | -0.848 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | I |
| G/I | 0.9871 | likely_pathogenic | 0.9827 | pathogenic | -0.418 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | I |
| G/K | 0.9953 | likely_pathogenic | 0.9951 | pathogenic | -1.054 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/L | 0.99 | likely_pathogenic | 0.9879 | pathogenic | -0.418 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| G/M | 0.9938 | likely_pathogenic | 0.9913 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | I |
| G/N | 0.9862 | likely_pathogenic | 0.9834 | pathogenic | -0.616 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/P | 0.9964 | likely_pathogenic | 0.9955 | pathogenic | -0.37 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/Q | 0.9909 | likely_pathogenic | 0.9889 | pathogenic | -0.899 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/R | 0.9837 | likely_pathogenic | 0.9819 | pathogenic | -0.625 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.782615886 | None | None | I |
| G/S | 0.7124 | likely_pathogenic | 0.6407 | pathogenic | -0.733 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/T | 0.9515 | likely_pathogenic | 0.9288 | pathogenic | -0.822 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| G/V | 0.9657 | likely_pathogenic | 0.9533 | pathogenic | -0.37 | Destabilizing | 1.0 | D | 0.758 | deleterious | D | 0.761644625 | None | None | I |
| G/W | 0.9923 | likely_pathogenic | 0.9907 | pathogenic | -1.29 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | D | 0.816577426 | None | None | I |
| G/Y | 0.9943 | likely_pathogenic | 0.9932 | pathogenic | -0.928 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | 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.