Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32090 | 96493;96494;96495 | chr2:178543876;178543875;178543874 | chr2:179408603;179408602;179408601 |
| N2AB | 30449 | 91570;91571;91572 | chr2:178543876;178543875;178543874 | chr2:179408603;179408602;179408601 |
| N2A | 29522 | 88789;88790;88791 | chr2:178543876;178543875;178543874 | chr2:179408603;179408602;179408601 |
| N2B | 23025 | 69298;69299;69300 | chr2:178543876;178543875;178543874 | chr2:179408603;179408602;179408601 |
| Novex-1 | 23150 | 69673;69674;69675 | chr2:178543876;178543875;178543874 | chr2:179408603;179408602;179408601 |
| Novex-2 | 23217 | 69874;69875;69876 | chr2:178543876;178543875;178543874 | chr2:179408603;179408602;179408601 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/R | rs1205947497  |
0.477 | 0.662 | N | 0.322 | 0.155 | 0.17948927462 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14863E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Q/R | rs1205947497 |
0.477 | 0.662 | N | 0.322 | 0.155 | 0.17948927462 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/R | rs1205947497 |
0.477 | 0.662 | N | 0.322 | 0.155 | 0.17948927462 | gnomAD-4.0.0 | 1.31423E-05 | None | None | None | None | N | None | 4.82532E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.1165 | likely_benign | 0.1217 | benign | -0.13 | Destabilizing | 0.209 | N | 0.365 | neutral | None | None | None | None | N |
| Q/C | 0.4961 | ambiguous | 0.5211 | ambiguous | -0.001 | Destabilizing | 0.991 | D | 0.329 | neutral | None | None | None | None | N |
| Q/D | 0.2687 | likely_benign | 0.2714 | benign | -0.155 | Destabilizing | 0.345 | N | 0.313 | neutral | None | None | None | None | N |
| Q/E | 0.0794 | likely_benign | 0.0805 | benign | -0.217 | Destabilizing | 0.285 | N | 0.328 | neutral | N | 0.397278466 | None | None | N |
| Q/F | 0.537 | ambiguous | 0.5584 | ambiguous | -0.564 | Destabilizing | 0.965 | D | 0.338 | neutral | None | None | None | None | N |
| Q/G | 0.2028 | likely_benign | 0.204 | benign | -0.226 | Destabilizing | 0.345 | N | 0.365 | neutral | None | None | None | None | N |
| Q/H | 0.1527 | likely_benign | 0.1619 | benign | -0.124 | Destabilizing | 0.954 | D | 0.307 | neutral | N | 0.452731891 | None | None | N |
| Q/I | 0.2209 | likely_benign | 0.2269 | benign | 0.024 | Stabilizing | 0.901 | D | 0.369 | neutral | None | None | None | None | N |
| Q/K | 0.0869 | likely_benign | 0.0854 | benign | 0.037 | Stabilizing | 0.285 | N | 0.349 | neutral | N | 0.405668663 | None | None | N |
| Q/L | 0.0997 | likely_benign | 0.1021 | benign | 0.024 | Stabilizing | 0.491 | N | 0.411 | neutral | N | 0.415483012 | None | None | N |
| Q/M | 0.2655 | likely_benign | 0.2698 | benign | 0.153 | Stabilizing | 0.965 | D | 0.313 | neutral | None | None | None | None | N |
| Q/N | 0.2013 | likely_benign | 0.2064 | benign | -0.21 | Destabilizing | 0.561 | D | 0.301 | neutral | None | None | None | None | N |
| Q/P | 0.0656 | likely_benign | 0.0678 | benign | -0.004 | Destabilizing | None | N | 0.155 | neutral | N | 0.387565692 | None | None | N |
| Q/R | 0.0974 | likely_benign | 0.0965 | benign | 0.193 | Stabilizing | 0.662 | D | 0.322 | neutral | N | 0.420176756 | None | None | N |
| Q/S | 0.1363 | likely_benign | 0.141 | benign | -0.179 | Destabilizing | 0.021 | N | 0.149 | neutral | None | None | None | None | N |
| Q/T | 0.13 | likely_benign | 0.1332 | benign | -0.119 | Destabilizing | 0.209 | N | 0.367 | neutral | None | None | None | None | N |
| Q/V | 0.1567 | likely_benign | 0.1592 | benign | -0.004 | Destabilizing | 0.561 | D | 0.407 | neutral | None | None | None | None | N |
| Q/W | 0.5173 | ambiguous | 0.5231 | ambiguous | -0.632 | Destabilizing | 0.991 | D | 0.382 | neutral | None | None | None | None | N |
| Q/Y | 0.3535 | ambiguous | 0.3609 | ambiguous | -0.34 | Destabilizing | 0.965 | D | 0.343 | neutral | 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.