Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28584 | 85975;85976;85977 | chr2:178560382;178560381;178560380 | chr2:179425109;179425108;179425107 |
| N2AB | 26943 | 81052;81053;81054 | chr2:178560382;178560381;178560380 | chr2:179425109;179425108;179425107 |
| N2A | 26016 | 78271;78272;78273 | chr2:178560382;178560381;178560380 | chr2:179425109;179425108;179425107 |
| N2B | 19519 | 58780;58781;58782 | chr2:178560382;178560381;178560380 | chr2:179425109;179425108;179425107 |
| Novex-1 | 19644 | 59155;59156;59157 | chr2:178560382;178560381;178560380 | chr2:179425109;179425108;179425107 |
| Novex-2 | 19711 | 59356;59357;59358 | chr2:178560382;178560381;178560380 | chr2:179425109;179425108;179425107 |
| 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 | None | -1.099 | 1.0 | N | 0.89 | 0.535 | 0.512998934155 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/E | None | -1.099 | 1.0 | N | 0.89 | 0.535 | 0.512998934155 | gnomAD-4.0.0 | 2.05276E-06 | None | None | None | None | N | None | 0 | 4.47307E-05 | None | 0 | 0 | None | 0 | 0 | 8.99476E-07 | 0 | 0 |
| G/V | rs992420765  |
None | 1.0 | D | 0.888 | 0.529 | 0.676149945393 | gnomAD-4.0.0 | 6.84255E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99476E-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 | 0.2424 | likely_benign | 0.2712 | benign | -0.381 | Destabilizing | 1.0 | D | 0.59 | neutral | N | 0.507001999 | None | None | N |
| G/C | 0.2955 | likely_benign | 0.3514 | ambiguous | -0.426 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| G/D | 0.765 | likely_pathogenic | 0.7954 | pathogenic | -1.195 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| G/E | 0.7837 | likely_pathogenic | 0.8027 | pathogenic | -1.106 | Destabilizing | 1.0 | D | 0.89 | deleterious | N | 0.500405407 | None | None | N |
| G/F | 0.842 | likely_pathogenic | 0.8747 | pathogenic | -0.434 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/H | 0.6435 | likely_pathogenic | 0.673 | pathogenic | -1.44 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/I | 0.7978 | likely_pathogenic | 0.8303 | pathogenic | 0.446 | Stabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/K | 0.8565 | likely_pathogenic | 0.8641 | pathogenic | -0.809 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| G/L | 0.7878 | likely_pathogenic | 0.8308 | pathogenic | 0.446 | Stabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| G/M | 0.7957 | likely_pathogenic | 0.8455 | pathogenic | 0.299 | Stabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/N | 0.4821 | ambiguous | 0.5329 | ambiguous | -0.749 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| G/P | 0.9959 | likely_pathogenic | 0.9954 | pathogenic | 0.215 | Stabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| G/Q | 0.7003 | likely_pathogenic | 0.7215 | pathogenic | -0.686 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| G/R | 0.6766 | likely_pathogenic | 0.6719 | pathogenic | -0.873 | Destabilizing | 1.0 | D | 0.881 | deleterious | N | 0.508950555 | None | None | N |
| G/S | 0.134 | likely_benign | 0.1619 | benign | -1.069 | Destabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | N |
| G/T | 0.3985 | ambiguous | 0.4657 | ambiguous | -0.88 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| G/V | 0.6572 | likely_pathogenic | 0.7021 | pathogenic | 0.215 | Stabilizing | 1.0 | D | 0.888 | deleterious | D | 0.543552904 | None | None | N |
| G/W | 0.7375 | likely_pathogenic | 0.7635 | pathogenic | -1.161 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| G/Y | 0.6755 | likely_pathogenic | 0.7212 | pathogenic | -0.54 | Destabilizing | 1.0 | D | 0.851 | 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.