Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3375 | 10348;10349;10350 | chr2:178759164;178759163;178759162 | chr2:179623891;179623890;179623889 |
| N2AB | 3375 | 10348;10349;10350 | chr2:178759164;178759163;178759162 | chr2:179623891;179623890;179623889 |
| N2A | 3375 | 10348;10349;10350 | chr2:178759164;178759163;178759162 | chr2:179623891;179623890;179623889 |
| N2B | 3329 | 10210;10211;10212 | chr2:178759164;178759163;178759162 | chr2:179623891;179623890;179623889 |
| Novex-1 | 3329 | 10210;10211;10212 | chr2:178759164;178759163;178759162 | chr2:179623891;179623890;179623889 |
| Novex-2 | 3329 | 10210;10211;10212 | chr2:178759164;178759163;178759162 | chr2:179623891;179623890;179623889 |
| Novex-3 | 3375 | 10348;10349;10350 | chr2:178759164;178759163;178759162 | chr2:179623891;179623890;179623889 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs2088242575  |
None | 0.174 | D | 0.608 | 0.533 | 0.680007063485 | gnomAD-4.0.0 | 1.59095E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85709E-06 | 0 | 0 |
| V/L | None | None | 0.031 | D | 0.48 | 0.363 | 0.449572021084 | gnomAD-4.0.0 | 1.36831E-06 | None | None | None | None | I | None | 0 | 2.23634E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65601E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.4259 | ambiguous | 0.4461 | ambiguous | -1.442 | Destabilizing | 0.174 | N | 0.608 | neutral | D | 0.645574423 | None | None | I |
| V/C | 0.9228 | likely_pathogenic | 0.9032 | pathogenic | -0.964 | Destabilizing | 0.991 | D | 0.637 | neutral | None | None | None | None | I |
| V/D | 0.8561 | likely_pathogenic | 0.857 | pathogenic | -1.151 | Destabilizing | 0.826 | D | 0.782 | deleterious | None | None | None | None | I |
| V/E | 0.7804 | likely_pathogenic | 0.7978 | pathogenic | -0.988 | Destabilizing | 0.782 | D | 0.739 | prob.delet. | D | 0.763877439 | None | None | I |
| V/F | 0.3812 | ambiguous | 0.3792 | ambiguous | -0.85 | Destabilizing | 0.826 | D | 0.633 | neutral | None | None | None | None | I |
| V/G | 0.5675 | likely_pathogenic | 0.5608 | ambiguous | -1.886 | Destabilizing | 0.782 | D | 0.767 | deleterious | D | 0.677855724 | None | None | I |
| V/H | 0.9339 | likely_pathogenic | 0.9343 | pathogenic | -1.318 | Destabilizing | 0.991 | D | 0.796 | deleterious | None | None | None | None | I |
| V/I | 0.0944 | likely_benign | 0.0951 | benign | -0.253 | Destabilizing | 0.002 | N | 0.236 | neutral | None | None | None | None | I |
| V/K | 0.8576 | likely_pathogenic | 0.8785 | pathogenic | -0.948 | Destabilizing | 0.826 | D | 0.746 | deleterious | None | None | None | None | I |
| V/L | 0.3838 | ambiguous | 0.4256 | ambiguous | -0.253 | Destabilizing | 0.031 | N | 0.48 | neutral | D | 0.548357932 | None | None | I |
| V/M | 0.3347 | likely_benign | 0.3454 | ambiguous | -0.378 | Destabilizing | 0.782 | D | 0.541 | neutral | D | 0.651417587 | None | None | I |
| V/N | 0.769 | likely_pathogenic | 0.7624 | pathogenic | -1.12 | Destabilizing | 0.826 | D | 0.796 | deleterious | None | None | None | None | I |
| V/P | 0.7868 | likely_pathogenic | 0.7839 | pathogenic | -0.619 | Destabilizing | 0.906 | D | 0.763 | deleterious | None | None | None | None | I |
| V/Q | 0.8351 | likely_pathogenic | 0.8515 | pathogenic | -1.012 | Destabilizing | 0.906 | D | 0.768 | deleterious | None | None | None | None | I |
| V/R | 0.8383 | likely_pathogenic | 0.8534 | pathogenic | -0.806 | Destabilizing | 0.826 | D | 0.798 | deleterious | None | None | None | None | I |
| V/S | 0.6469 | likely_pathogenic | 0.6485 | pathogenic | -1.776 | Destabilizing | 0.404 | N | 0.752 | deleterious | None | None | None | None | I |
| V/T | 0.4997 | ambiguous | 0.5157 | ambiguous | -1.461 | Destabilizing | 0.018 | N | 0.383 | neutral | None | None | None | None | I |
| V/W | 0.9587 | likely_pathogenic | 0.9569 | pathogenic | -1.135 | Destabilizing | 0.991 | D | 0.811 | deleterious | None | None | None | None | I |
| V/Y | 0.8447 | likely_pathogenic | 0.8311 | pathogenic | -0.746 | Destabilizing | 0.906 | D | 0.627 | neutral | 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.