Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31777 | 95554;95555;95556 | chr2:178545907;178545906;178545905 | chr2:179410634;179410633;179410632 |
| N2AB | 30136 | 90631;90632;90633 | chr2:178545907;178545906;178545905 | chr2:179410634;179410633;179410632 |
| N2A | 29209 | 87850;87851;87852 | chr2:178545907;178545906;178545905 | chr2:179410634;179410633;179410632 |
| N2B | 22712 | 68359;68360;68361 | chr2:178545907;178545906;178545905 | chr2:179410634;179410633;179410632 |
| Novex-1 | 22837 | 68734;68735;68736 | chr2:178545907;178545906;178545905 | chr2:179410634;179410633;179410632 |
| Novex-2 | 22904 | 68935;68936;68937 | chr2:178545907;178545906;178545905 | chr2:179410634;179410633;179410632 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | rs955172279  |
None | 0.999 | N | 0.704 | 0.58 | 0.476754456241 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 2.88018E-04 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| E/A | rs955172279 |
None | 0.999 | N | 0.704 | 0.58 | 0.476754456241 | gnomAD-4.0.0 | 7.68565E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.08965E-05 | 0 | None | 0 | 0 | 9.57153E-06 | 1.33998E-05 | 0 |
| E/D | None | None | 0.999 | N | 0.467 | 0.437 | 0.212008924253 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| E/K | rs1203504106 |
-0.786 | 0.999 | N | 0.595 | 0.373 | 0.436132833422 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65618E-04 |
| E/K | rs1203504106 |
-0.786 | 0.999 | N | 0.595 | 0.373 | 0.436132833422 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | rs1203504106 |
-0.786 | 0.999 | N | 0.595 | 0.373 | 0.436132833422 | gnomAD-4.0.0 | 1.85901E-06 | None | None | None | None | N | None | 0 | 1.66689E-05 | None | 0 | 0 | None | 0 | 0 | 8.47606E-07 | 0 | 1.60113E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.5821 | likely_pathogenic | 0.6161 | pathogenic | -0.963 | Destabilizing | 0.999 | D | 0.704 | prob.neutral | N | 0.492982213 | None | None | N |
| E/C | 0.9785 | likely_pathogenic | 0.9772 | pathogenic | -0.48 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| E/D | 0.7207 | likely_pathogenic | 0.743 | pathogenic | -1.103 | Destabilizing | 0.999 | D | 0.467 | neutral | N | 0.487866878 | None | None | N |
| E/F | 0.9877 | likely_pathogenic | 0.9876 | pathogenic | -0.295 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| E/G | 0.7912 | likely_pathogenic | 0.7865 | pathogenic | -1.371 | Destabilizing | 1.0 | D | 0.769 | deleterious | N | 0.510530263 | None | None | N |
| E/H | 0.9298 | likely_pathogenic | 0.9247 | pathogenic | -0.617 | Destabilizing | 1.0 | D | 0.664 | neutral | None | None | None | None | N |
| E/I | 0.839 | likely_pathogenic | 0.8546 | pathogenic | 0.165 | Stabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| E/K | 0.6443 | likely_pathogenic | 0.6402 | pathogenic | -0.662 | Destabilizing | 0.999 | D | 0.595 | neutral | N | 0.484864684 | None | None | N |
| E/L | 0.9165 | likely_pathogenic | 0.9268 | pathogenic | 0.165 | Stabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| E/M | 0.8865 | likely_pathogenic | 0.8988 | pathogenic | 0.689 | Stabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| E/N | 0.825 | likely_pathogenic | 0.8332 | pathogenic | -1.174 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| E/P | 0.9703 | likely_pathogenic | 0.9754 | pathogenic | -0.19 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| E/Q | 0.3955 | ambiguous | 0.3748 | ambiguous | -0.998 | Destabilizing | 1.0 | D | 0.61 | neutral | N | 0.472382743 | None | None | N |
| E/R | 0.7661 | likely_pathogenic | 0.7545 | pathogenic | -0.425 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| E/S | 0.6832 | likely_pathogenic | 0.7025 | pathogenic | -1.577 | Destabilizing | 0.999 | D | 0.637 | neutral | None | None | None | None | N |
| E/T | 0.6782 | likely_pathogenic | 0.7106 | pathogenic | -1.225 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| E/V | 0.7109 | likely_pathogenic | 0.7406 | pathogenic | -0.19 | Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.489387815 | None | None | N |
| E/W | 0.9972 | likely_pathogenic | 0.9969 | pathogenic | -0.019 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| E/Y | 0.9744 | likely_pathogenic | 0.9738 | pathogenic | -0.019 | Destabilizing | 1.0 | D | 0.786 | 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.