Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26152 | 78679;78680;78681 | chr2:178567678;178567677;178567676 | chr2:179432405;179432404;179432403 |
| N2AB | 24511 | 73756;73757;73758 | chr2:178567678;178567677;178567676 | chr2:179432405;179432404;179432403 |
| N2A | 23584 | 70975;70976;70977 | chr2:178567678;178567677;178567676 | chr2:179432405;179432404;179432403 |
| N2B | 17087 | 51484;51485;51486 | chr2:178567678;178567677;178567676 | chr2:179432405;179432404;179432403 |
| Novex-1 | 17212 | 51859;51860;51861 | chr2:178567678;178567677;178567676 | chr2:179432405;179432404;179432403 |
| Novex-2 | 17279 | 52060;52061;52062 | chr2:178567678;178567677;178567676 | chr2:179432405;179432404;179432403 |
| 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/C | None | None | 1.0 | D | 0.728 | 0.502 | 0.645716986391 | gnomAD-4.0.0 | 6.84836E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.0014E-07 | 0 | 0 |
| G/D | None | None | 0.997 | N | 0.769 | 0.41 | 0.176091768786 | gnomAD-4.0.0 | 1.59453E-06 | None | None | None | None | N | None | 0 | 2.28969E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs781374181  |
-0.285 | 0.778 | N | 0.523 | 0.373 | 0.143124449307 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| G/S | rs781374181 |
-0.285 | 0.778 | N | 0.523 | 0.373 | 0.143124449307 | gnomAD-4.0.0 | 2.05451E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70042E-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 | 0.3328 | likely_benign | 0.2991 | benign | -0.243 | Destabilizing | 0.983 | D | 0.525 | neutral | N | 0.479906571 | None | None | N |
| G/C | 0.5429 | ambiguous | 0.4909 | ambiguous | -0.891 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | D | 0.523712404 | None | None | N |
| G/D | 0.7524 | likely_pathogenic | 0.6953 | pathogenic | -0.346 | Destabilizing | 0.997 | D | 0.769 | deleterious | N | 0.472372792 | None | None | N |
| G/E | 0.7788 | likely_pathogenic | 0.724 | pathogenic | -0.501 | Destabilizing | 0.998 | D | 0.745 | deleterious | None | None | None | None | N |
| G/F | 0.9235 | likely_pathogenic | 0.8967 | pathogenic | -0.937 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| G/H | 0.8364 | likely_pathogenic | 0.796 | pathogenic | -0.433 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| G/I | 0.842 | likely_pathogenic | 0.8114 | pathogenic | -0.377 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| G/K | 0.9246 | likely_pathogenic | 0.895 | pathogenic | -0.703 | Destabilizing | 0.998 | D | 0.741 | deleterious | None | None | None | None | N |
| G/L | 0.841 | likely_pathogenic | 0.8013 | pathogenic | -0.377 | Destabilizing | 0.998 | D | 0.761 | deleterious | None | None | None | None | N |
| G/M | 0.844 | likely_pathogenic | 0.803 | pathogenic | -0.5 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| G/N | 0.5533 | ambiguous | 0.5169 | ambiguous | -0.387 | Destabilizing | 0.998 | D | 0.769 | deleterious | None | None | None | None | N |
| G/P | 0.9866 | likely_pathogenic | 0.9829 | pathogenic | -0.3 | Destabilizing | 0.999 | D | 0.767 | deleterious | None | None | None | None | N |
| G/Q | 0.7815 | likely_pathogenic | 0.7343 | pathogenic | -0.637 | Destabilizing | 0.999 | D | 0.775 | deleterious | None | None | None | None | N |
| G/R | 0.8466 | likely_pathogenic | 0.7901 | pathogenic | -0.299 | Destabilizing | 0.997 | D | 0.775 | deleterious | N | 0.475614157 | None | None | N |
| G/S | 0.2009 | likely_benign | 0.1842 | benign | -0.567 | Destabilizing | 0.778 | D | 0.523 | neutral | N | 0.472789773 | None | None | N |
| G/T | 0.5111 | ambiguous | 0.4794 | ambiguous | -0.642 | Destabilizing | 0.996 | D | 0.761 | deleterious | None | None | None | None | N |
| G/V | 0.7221 | likely_pathogenic | 0.6838 | pathogenic | -0.3 | Destabilizing | 0.997 | D | 0.773 | deleterious | D | 0.53506871 | None | None | N |
| G/W | 0.9046 | likely_pathogenic | 0.8653 | pathogenic | -1.09 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| G/Y | 0.8833 | likely_pathogenic | 0.8491 | pathogenic | -0.734 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | 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.