Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7276 | 22051;22052;22053 | chr2:178723181;178723180;178723179 | chr2:179587908;179587907;179587906 |
| N2AB | 6959 | 21100;21101;21102 | chr2:178723181;178723180;178723179 | chr2:179587908;179587907;179587906 |
| N2A | 6032 | 18319;18320;18321 | chr2:178723181;178723180;178723179 | chr2:179587908;179587907;179587906 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/G | None | None | 0.491 | N | 0.583 | 0.381 | 0.649436034143 | gnomAD-4.0.0 | 6.84332E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52118E-05 | None | 0 | 0 | 0 | 0 | 0 |
| C/S | rs1362677027  |
None | 0.285 | N | 0.514 | 0.289 | 0.651006993216 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| C/S | rs1362677027 |
None | 0.285 | N | 0.514 | 0.289 | 0.651006993216 | gnomAD-4.0.0 | 2.47934E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39091E-06 | 0 | 0 |
| C/Y | None | None | 0.005 | N | 0.371 | 0.29 | 0.503186968135 | gnomAD-4.0.0 | 5.47471E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.19656E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.573 | likely_pathogenic | 0.5227 | ambiguous | -1.516 | Destabilizing | 0.187 | N | 0.369 | neutral | None | None | None | None | N |
| C/D | 0.8761 | likely_pathogenic | 0.8393 | pathogenic | -0.77 | Destabilizing | 0.39 | N | 0.621 | neutral | None | None | None | None | N |
| C/E | 0.8867 | likely_pathogenic | 0.844 | pathogenic | -0.634 | Destabilizing | 0.017 | N | 0.457 | neutral | None | None | None | None | N |
| C/F | 0.2655 | likely_benign | 0.2561 | benign | -1.079 | Destabilizing | 0.326 | N | 0.599 | neutral | N | 0.467293125 | None | None | N |
| C/G | 0.351 | ambiguous | 0.3121 | benign | -1.834 | Destabilizing | 0.491 | N | 0.583 | neutral | N | 0.514991071 | None | None | N |
| C/H | 0.625 | likely_pathogenic | 0.5883 | pathogenic | -2.161 | Highly Destabilizing | 0.818 | D | 0.663 | neutral | None | None | None | None | N |
| C/I | 0.5169 | ambiguous | 0.4967 | ambiguous | -0.702 | Destabilizing | 0.39 | N | 0.543 | neutral | None | None | None | None | N |
| C/K | 0.9022 | likely_pathogenic | 0.859 | pathogenic | -0.85 | Destabilizing | 0.209 | N | 0.539 | neutral | None | None | None | None | N |
| C/L | 0.586 | likely_pathogenic | 0.5572 | ambiguous | -0.702 | Destabilizing | 0.002 | N | 0.315 | neutral | None | None | None | None | N |
| C/M | 0.6862 | likely_pathogenic | 0.6508 | pathogenic | 0.011 | Stabilizing | 0.818 | D | 0.649 | neutral | None | None | None | None | N |
| C/N | 0.6488 | likely_pathogenic | 0.6117 | pathogenic | -1.013 | Destabilizing | 0.561 | D | 0.661 | neutral | None | None | None | None | N |
| C/P | 0.9866 | likely_pathogenic | 0.9787 | pathogenic | -0.947 | Destabilizing | 0.965 | D | 0.693 | prob.neutral | None | None | None | None | N |
| C/Q | 0.7773 | likely_pathogenic | 0.7098 | pathogenic | -0.85 | Destabilizing | 0.561 | D | 0.657 | neutral | None | None | None | None | N |
| C/R | 0.6545 | likely_pathogenic | 0.5793 | pathogenic | -0.983 | Destabilizing | 0.003 | N | 0.473 | neutral | N | 0.48688175 | None | None | N |
| C/S | 0.4489 | ambiguous | 0.4053 | ambiguous | -1.433 | Destabilizing | 0.285 | N | 0.514 | neutral | N | 0.509065177 | None | None | N |
| C/T | 0.5298 | ambiguous | 0.4932 | ambiguous | -1.111 | Destabilizing | 0.345 | N | 0.527 | neutral | None | None | None | None | N |
| C/V | 0.4633 | ambiguous | 0.435 | ambiguous | -0.947 | Destabilizing | 0.209 | N | 0.497 | neutral | None | None | None | None | N |
| C/W | 0.5155 | ambiguous | 0.494 | ambiguous | -1.24 | Destabilizing | 0.963 | D | 0.624 | neutral | N | 0.492618544 | None | None | N |
| C/Y | 0.2379 | likely_benign | 0.2595 | benign | -1.092 | Destabilizing | 0.005 | N | 0.371 | neutral | N | 0.398182543 | 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.