Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24044 | 72355;72356;72357 | chr2:178574002;178574001;178574000 | chr2:179438729;179438728;179438727 |
| N2AB | 22403 | 67432;67433;67434 | chr2:178574002;178574001;178574000 | chr2:179438729;179438728;179438727 |
| N2A | 21476 | 64651;64652;64653 | chr2:178574002;178574001;178574000 | chr2:179438729;179438728;179438727 |
| N2B | 14979 | 45160;45161;45162 | chr2:178574002;178574001;178574000 | chr2:179438729;179438728;179438727 |
| Novex-1 | 15104 | 45535;45536;45537 | chr2:178574002;178574001;178574000 | chr2:179438729;179438728;179438727 |
| Novex-2 | 15171 | 45736;45737;45738 | chr2:178574002;178574001;178574000 | chr2:179438729;179438728;179438727 |
| 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/D | rs794729491  |
-0.737 | 1.0 | D | 0.862 | 0.783 | 0.66969415844 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs794729491 |
-0.737 | 1.0 | D | 0.862 | 0.783 | 0.66969415844 | gnomAD-4.0.0 | 1.36877E-06 | None | None | None | None | I | None | 5.97729E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | None | None | 1.0 | D | 0.83 | 0.824 | 0.635004642788 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5605 | ambiguous | 0.6006 | pathogenic | -0.368 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.604324136 | None | None | I |
| G/C | 0.6833 | likely_pathogenic | 0.707 | pathogenic | -0.956 | Destabilizing | 1.0 | D | 0.818 | deleterious | D | 0.662506383 | None | None | I |
| G/D | 0.6386 | likely_pathogenic | 0.6512 | pathogenic | -0.763 | Destabilizing | 1.0 | D | 0.862 | deleterious | D | 0.593190951 | None | None | I |
| G/E | 0.6737 | likely_pathogenic | 0.7071 | pathogenic | -0.933 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | I |
| G/F | 0.9486 | likely_pathogenic | 0.9539 | pathogenic | -1.135 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/H | 0.7928 | likely_pathogenic | 0.8029 | pathogenic | -0.53 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/I | 0.9615 | likely_pathogenic | 0.9664 | pathogenic | -0.547 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/K | 0.7307 | likely_pathogenic | 0.7562 | pathogenic | -0.808 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/L | 0.8999 | likely_pathogenic | 0.911 | pathogenic | -0.547 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | I |
| G/M | 0.9147 | likely_pathogenic | 0.9291 | pathogenic | -0.481 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/N | 0.621 | likely_pathogenic | 0.6404 | pathogenic | -0.515 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/P | 0.9924 | likely_pathogenic | 0.9927 | pathogenic | -0.456 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | I |
| G/Q | 0.6565 | likely_pathogenic | 0.6947 | pathogenic | -0.849 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | I |
| G/R | 0.5691 | likely_pathogenic | 0.6215 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.616830667 | None | None | I |
| G/S | 0.3021 | likely_benign | 0.3258 | benign | -0.643 | Destabilizing | 1.0 | D | 0.83 | deleterious | D | 0.620141693 | None | None | I |
| G/T | 0.6863 | likely_pathogenic | 0.7071 | pathogenic | -0.75 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/V | 0.907 | likely_pathogenic | 0.9202 | pathogenic | -0.456 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.662304578 | None | None | I |
| G/W | 0.8501 | likely_pathogenic | 0.862 | pathogenic | -1.243 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/Y | 0.9013 | likely_pathogenic | 0.9099 | pathogenic | -0.909 | Destabilizing | 1.0 | D | 0.823 | 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.