Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17452 | 52579;52580;52581 | chr2:178608657;178608656;178608655 | chr2:179473384;179473383;179473382 |
| N2AB | 15811 | 47656;47657;47658 | chr2:178608657;178608656;178608655 | chr2:179473384;179473383;179473382 |
| N2A | 14884 | 44875;44876;44877 | chr2:178608657;178608656;178608655 | chr2:179473384;179473383;179473382 |
| N2B | 8387 | 25384;25385;25386 | chr2:178608657;178608656;178608655 | chr2:179473384;179473383;179473382 |
| Novex-1 | 8512 | 25759;25760;25761 | chr2:178608657;178608656;178608655 | chr2:179473384;179473383;179473382 |
| Novex-2 | 8579 | 25960;25961;25962 | chr2:178608657;178608656;178608655 | chr2:179473384;179473383;179473382 |
| 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/R | rs777777062  |
None | 1.0 | D | 0.879 | 0.748 | 0.733010739681 | gnomAD-4.0.0 | 3.19082E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72846E-06 | 0 | 0 |
| G/V | None | None | 1.0 | D | 0.867 | 0.783 | 0.717789603643 | 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 | 0.9125 | likely_pathogenic | 0.9149 | pathogenic | -0.656 | Destabilizing | 1.0 | D | 0.74 | deleterious | D | 0.558017217 | None | None | I |
| G/C | 0.9515 | likely_pathogenic | 0.9553 | pathogenic | -0.975 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/D | 0.9895 | likely_pathogenic | 0.99 | pathogenic | -1.0 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | I |
| G/E | 0.991 | likely_pathogenic | 0.9914 | pathogenic | -1.132 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.558524196 | None | None | I |
| G/F | 0.9881 | likely_pathogenic | 0.9886 | pathogenic | -1.183 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/H | 0.9918 | likely_pathogenic | 0.9916 | pathogenic | -0.997 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | I |
| G/I | 0.9894 | likely_pathogenic | 0.9905 | pathogenic | -0.585 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| G/K | 0.9917 | likely_pathogenic | 0.9917 | pathogenic | -1.21 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
| G/L | 0.9783 | likely_pathogenic | 0.9795 | pathogenic | -0.585 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/M | 0.994 | likely_pathogenic | 0.9943 | pathogenic | -0.492 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | I |
| G/N | 0.9888 | likely_pathogenic | 0.9889 | pathogenic | -0.828 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | I |
| G/P | 0.9969 | likely_pathogenic | 0.9975 | pathogenic | -0.571 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | I |
| G/Q | 0.9853 | likely_pathogenic | 0.9848 | pathogenic | -1.12 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | I |
| G/R | 0.9805 | likely_pathogenic | 0.9796 | pathogenic | -0.724 | Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.54716789 | None | None | I |
| G/S | 0.8631 | likely_pathogenic | 0.8671 | pathogenic | -1.012 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/T | 0.9758 | likely_pathogenic | 0.9779 | pathogenic | -1.077 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
| G/V | 0.984 | likely_pathogenic | 0.9857 | pathogenic | -0.571 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.558017217 | None | None | I |
| G/W | 0.9891 | likely_pathogenic | 0.9905 | pathogenic | -1.377 | Destabilizing | 1.0 | D | 0.836 | deleterious | D | 0.559284664 | None | None | I |
| G/Y | 0.9888 | likely_pathogenic | 0.9898 | pathogenic | -1.038 | Destabilizing | 1.0 | D | 0.865 | 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.