Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28912 | 86959;86960;86961 | chr2:178559398;178559397;178559396 | chr2:179424125;179424124;179424123 |
| N2AB | 27271 | 82036;82037;82038 | chr2:178559398;178559397;178559396 | chr2:179424125;179424124;179424123 |
| N2A | 26344 | 79255;79256;79257 | chr2:178559398;178559397;178559396 | chr2:179424125;179424124;179424123 |
| N2B | 19847 | 59764;59765;59766 | chr2:178559398;178559397;178559396 | chr2:179424125;179424124;179424123 |
| Novex-1 | 19972 | 60139;60140;60141 | chr2:178559398;178559397;178559396 | chr2:179424125;179424124;179424123 |
| Novex-2 | 20039 | 60340;60341;60342 | chr2:178559398;178559397;178559396 | chr2:179424125;179424124;179424123 |
| 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 | rs1559275550  |
-1.272 | 0.999 | N | 0.871 | 0.464 | 0.690614233577 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/E | rs1559275550 |
-1.272 | 0.999 | N | 0.871 | 0.464 | 0.690614233577 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/E | rs1559275550 |
-1.272 | 0.999 | N | 0.871 | 0.464 | 0.690614233577 | gnomAD-4.0.0 | 6.57203E-06 | None | None | None | None | N | None | 2.41301E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | None | None | 0.999 | N | 0.879 | 0.506 | 0.883823754003 | gnomAD-4.0.0 | 6.8427E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99552E-07 | 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 | 0.3977 | ambiguous | 0.4262 | ambiguous | -0.58 | Destabilizing | 0.976 | D | 0.633 | neutral | N | 0.489217367 | None | None | N |
| G/C | 0.5937 | likely_pathogenic | 0.6689 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/D | 0.5805 | likely_pathogenic | 0.676 | pathogenic | -0.866 | Destabilizing | 0.999 | D | 0.8 | deleterious | None | None | None | None | N |
| G/E | 0.7047 | likely_pathogenic | 0.7568 | pathogenic | -0.994 | Destabilizing | 0.999 | D | 0.871 | deleterious | N | 0.483292338 | None | None | N |
| G/F | 0.9296 | likely_pathogenic | 0.9447 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| G/H | 0.812 | likely_pathogenic | 0.8682 | pathogenic | -0.898 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/I | 0.9139 | likely_pathogenic | 0.9337 | pathogenic | -0.492 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| G/K | 0.867 | likely_pathogenic | 0.9105 | pathogenic | -1.166 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| G/L | 0.8692 | likely_pathogenic | 0.8957 | pathogenic | -0.492 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| G/M | 0.8391 | likely_pathogenic | 0.8702 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| G/N | 0.4275 | ambiguous | 0.5313 | ambiguous | -0.765 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| G/P | 0.9912 | likely_pathogenic | 0.992 | pathogenic | -0.484 | Destabilizing | 0.999 | D | 0.889 | deleterious | None | None | None | None | N |
| G/Q | 0.7748 | likely_pathogenic | 0.8306 | pathogenic | -1.043 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| G/R | 0.8287 | likely_pathogenic | 0.8733 | pathogenic | -0.684 | Destabilizing | 0.999 | D | 0.895 | deleterious | N | 0.518450891 | None | None | N |
| G/S | 0.2255 | likely_benign | 0.2504 | benign | -0.963 | Destabilizing | 0.771 | D | 0.667 | neutral | None | None | None | None | N |
| G/T | 0.5407 | ambiguous | 0.5722 | pathogenic | -1.023 | Destabilizing | 0.999 | D | 0.867 | deleterious | None | None | None | None | N |
| G/V | 0.8261 | likely_pathogenic | 0.8532 | pathogenic | -0.484 | Destabilizing | 0.999 | D | 0.879 | deleterious | N | 0.514438419 | None | None | N |
| G/W | 0.8665 | likely_pathogenic | 0.9009 | pathogenic | -1.268 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| G/Y | 0.8341 | likely_pathogenic | 0.8777 | pathogenic | -0.922 | Destabilizing | 1.0 | D | 0.871 | 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.