Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26670 | 80233;80234;80235 | chr2:178566124;178566123;178566122 | chr2:179430851;179430850;179430849 |
| N2AB | 25029 | 75310;75311;75312 | chr2:178566124;178566123;178566122 | chr2:179430851;179430850;179430849 |
| N2A | 24102 | 72529;72530;72531 | chr2:178566124;178566123;178566122 | chr2:179430851;179430850;179430849 |
| N2B | 17605 | 53038;53039;53040 | chr2:178566124;178566123;178566122 | chr2:179430851;179430850;179430849 |
| Novex-1 | 17730 | 53413;53414;53415 | chr2:178566124;178566123;178566122 | chr2:179430851;179430850;179430849 |
| Novex-2 | 17797 | 53614;53615;53616 | chr2:178566124;178566123;178566122 | chr2:179430851;179430850;179430849 |
| 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 | None | 1.0 | D | 0.849 | 0.832 | 0.664487949213 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62501E-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 | 0.642 | likely_pathogenic | 0.5827 | pathogenic | -0.098 | Destabilizing | 1.0 | D | 0.763 | deleterious | D | 0.626838773 | None | None | I |
| G/C | 0.8115 | likely_pathogenic | 0.7912 | pathogenic | -0.74 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/D | 0.9125 | likely_pathogenic | 0.8929 | pathogenic | -0.405 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | I |
| G/E | 0.9313 | likely_pathogenic | 0.9142 | pathogenic | -0.57 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.574809977 | None | None | I |
| G/F | 0.9705 | likely_pathogenic | 0.9698 | pathogenic | -0.978 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | I |
| G/H | 0.9479 | likely_pathogenic | 0.9422 | pathogenic | -0.347 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | I |
| G/I | 0.9568 | likely_pathogenic | 0.9536 | pathogenic | -0.373 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/K | 0.9436 | likely_pathogenic | 0.9372 | pathogenic | -0.378 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | I |
| G/L | 0.947 | likely_pathogenic | 0.9432 | pathogenic | -0.373 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/M | 0.9644 | likely_pathogenic | 0.9622 | pathogenic | -0.351 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/N | 0.889 | likely_pathogenic | 0.8763 | pathogenic | -0.125 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/P | 0.9973 | likely_pathogenic | 0.9976 | pathogenic | -0.256 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | I |
| G/Q | 0.904 | likely_pathogenic | 0.8905 | pathogenic | -0.403 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
| G/R | 0.8815 | likely_pathogenic | 0.8679 | pathogenic | -0.034 | Destabilizing | 1.0 | D | 0.88 | deleterious | D | 0.643292103 | None | None | I |
| G/S | 0.4922 | ambiguous | 0.4507 | ambiguous | -0.231 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | I |
| G/T | 0.8481 | likely_pathogenic | 0.826 | pathogenic | -0.334 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/V | 0.9202 | likely_pathogenic | 0.9118 | pathogenic | -0.256 | Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.627645991 | None | None | I |
| G/W | 0.9672 | likely_pathogenic | 0.9689 | pathogenic | -1.108 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/Y | 0.9594 | likely_pathogenic | 0.956 | pathogenic | -0.749 | Destabilizing | 1.0 | D | 0.85 | 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.