Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26170 | 78733;78734;78735 | chr2:178567624;178567623;178567622 | chr2:179432351;179432350;179432349 |
| N2AB | 24529 | 73810;73811;73812 | chr2:178567624;178567623;178567622 | chr2:179432351;179432350;179432349 |
| N2A | 23602 | 71029;71030;71031 | chr2:178567624;178567623;178567622 | chr2:179432351;179432350;179432349 |
| N2B | 17105 | 51538;51539;51540 | chr2:178567624;178567623;178567622 | chr2:179432351;179432350;179432349 |
| Novex-1 | 17230 | 51913;51914;51915 | chr2:178567624;178567623;178567622 | chr2:179432351;179432350;179432349 |
| Novex-2 | 17297 | 52114;52115;52116 | chr2:178567624;178567623;178567622 | chr2:179432351;179432350;179432349 |
| 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/S | rs781248790  |
-0.694 | 1.0 | D | 0.809 | 0.701 | 0.427829143865 | gnomAD-2.1.1 | 1.08E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.35E-05 | 0 |
| G/S | rs781248790 |
-0.694 | 1.0 | D | 0.809 | 0.701 | 0.427829143865 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/S | rs781248790 |
-0.694 | 1.0 | D | 0.809 | 0.701 | 0.427829143865 | gnomAD-4.0.0 | 1.05471E-05 | None | None | None | None | I | None | 2.67165E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.2727E-05 | 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 | 0.5474 | ambiguous | 0.4753 | ambiguous | -0.304 | Destabilizing | 1.0 | D | 0.662 | neutral | D | 0.543125285 | None | None | I |
| G/C | 0.7214 | likely_pathogenic | 0.6337 | pathogenic | -0.878 | Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.566851853 | None | None | I |
| G/D | 0.6849 | likely_pathogenic | 0.6161 | pathogenic | -0.779 | Destabilizing | 0.898 | D | 0.612 | neutral | D | 0.524260561 | None | None | I |
| G/E | 0.7815 | likely_pathogenic | 0.7277 | pathogenic | -0.953 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | I |
| G/F | 0.9395 | likely_pathogenic | 0.91 | pathogenic | -1.096 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | I |
| G/H | 0.872 | likely_pathogenic | 0.8178 | pathogenic | -0.486 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/I | 0.9347 | likely_pathogenic | 0.9011 | pathogenic | -0.503 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
| G/K | 0.9169 | likely_pathogenic | 0.8765 | pathogenic | -0.83 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | I |
| G/L | 0.8787 | likely_pathogenic | 0.8423 | pathogenic | -0.503 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/M | 0.9001 | likely_pathogenic | 0.8682 | pathogenic | -0.486 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| G/N | 0.584 | likely_pathogenic | 0.5306 | ambiguous | -0.471 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| G/P | 0.9973 | likely_pathogenic | 0.9955 | pathogenic | -0.406 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | I |
| G/Q | 0.7969 | likely_pathogenic | 0.7331 | pathogenic | -0.799 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | I |
| G/R | 0.853 | likely_pathogenic | 0.768 | pathogenic | -0.315 | Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.547391245 | None | None | I |
| G/S | 0.3303 | likely_benign | 0.2746 | benign | -0.578 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.524514051 | None | None | I |
| G/T | 0.7334 | likely_pathogenic | 0.6683 | pathogenic | -0.691 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | I |
| G/V | 0.8609 | likely_pathogenic | 0.7945 | pathogenic | -0.406 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.555242059 | None | None | I |
| G/W | 0.9233 | likely_pathogenic | 0.8784 | pathogenic | -1.221 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | I |
| G/Y | 0.8942 | likely_pathogenic | 0.8466 | pathogenic | -0.887 | Destabilizing | 1.0 | D | 0.869 | 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.