Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6386 | 19381;19382;19383 | chr2:178728770;178728769;178728768 | chr2:179593497;179593496;179593495 |
| N2AB | 6069 | 18430;18431;18432 | chr2:178728770;178728769;178728768 | chr2:179593497;179593496;179593495 |
| N2A | 5142 | 15649;15650;15651 | chr2:178728770;178728769;178728768 | chr2:179593497;179593496;179593495 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | rs1578126437  |
None | 0.334 | N | 0.314 | 0.171 | 0.26169431596 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/E | rs1578126437 |
None | 0.334 | N | 0.314 | 0.171 | 0.26169431596 | gnomAD-4.0.0 | 6.57376E-06 | None | None | None | None | N | None | 2.41324E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/H | rs727504206 |
None | 0.009 | N | 0.179 | 0.195 | 0.257292322809 | 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 |
| Q/H | rs727504206 |
None | 0.009 | N | 0.179 | 0.195 | 0.257292322809 | gnomAD-4.0.0 | 6.57212E-06 | None | None | None | None | N | None | 0 | 6.55394E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/P | rs1487828646 |
0.274 | 0.963 | N | 0.363 | 0.351 | 0.388970301349 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| Q/P | rs1487828646 |
0.274 | 0.963 | N | 0.363 | 0.351 | 0.388970301349 | gnomAD-4.0.0 | 2.76379E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.72568E-06 | 0 | 1.67504E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2462 | likely_benign | 0.2136 | benign | -0.266 | Destabilizing | 0.25 | N | 0.316 | neutral | None | None | None | None | N |
| Q/C | 0.5159 | ambiguous | 0.4785 | ambiguous | 0.099 | Stabilizing | 0.992 | D | 0.299 | neutral | None | None | None | None | N |
| Q/D | 0.4015 | ambiguous | 0.3561 | ambiguous | 0.274 | Stabilizing | 0.617 | D | 0.262 | neutral | None | None | None | None | N |
| Q/E | 0.0863 | likely_benign | 0.0831 | benign | 0.287 | Stabilizing | 0.334 | N | 0.314 | neutral | N | 0.486457676 | None | None | N |
| Q/F | 0.5098 | ambiguous | 0.4561 | ambiguous | -0.324 | Destabilizing | 0.85 | D | 0.337 | neutral | None | None | None | None | N |
| Q/G | 0.3408 | ambiguous | 0.3005 | benign | -0.5 | Destabilizing | 0.617 | D | 0.316 | neutral | None | None | None | None | N |
| Q/H | 0.1522 | likely_benign | 0.1336 | benign | -0.311 | Destabilizing | 0.009 | N | 0.179 | neutral | N | 0.499138972 | None | None | N |
| Q/I | 0.2798 | likely_benign | 0.247 | benign | 0.272 | Stabilizing | 0.447 | N | 0.341 | neutral | None | None | None | None | N |
| Q/K | 0.0784 | likely_benign | 0.0752 | benign | 0.15 | Stabilizing | 0.201 | N | 0.305 | neutral | N | 0.433681984 | None | None | N |
| Q/L | 0.1182 | likely_benign | 0.1053 | benign | 0.272 | Stabilizing | 0.201 | N | 0.323 | neutral | N | 0.512876273 | None | None | N |
| Q/M | 0.3011 | likely_benign | 0.2726 | benign | 0.431 | Stabilizing | 0.92 | D | 0.349 | neutral | None | None | None | None | N |
| Q/N | 0.2707 | likely_benign | 0.2339 | benign | -0.347 | Destabilizing | 0.447 | N | 0.28 | neutral | None | None | None | None | N |
| Q/P | 0.7368 | likely_pathogenic | 0.7046 | pathogenic | 0.123 | Stabilizing | 0.963 | D | 0.363 | neutral | N | 0.486973457 | None | None | N |
| Q/R | 0.0827 | likely_benign | 0.0807 | benign | 0.238 | Stabilizing | 0.004 | N | 0.189 | neutral | N | 0.40957576 | None | None | N |
| Q/S | 0.2605 | likely_benign | 0.234 | benign | -0.377 | Destabilizing | 0.447 | N | 0.265 | neutral | None | None | None | None | N |
| Q/T | 0.1665 | likely_benign | 0.1544 | benign | -0.185 | Destabilizing | 0.021 | N | 0.178 | neutral | None | None | None | None | N |
| Q/V | 0.1738 | likely_benign | 0.1574 | benign | 0.123 | Stabilizing | 0.005 | N | 0.247 | neutral | None | None | None | None | N |
| Q/W | 0.3947 | ambiguous | 0.3689 | ambiguous | -0.258 | Destabilizing | 0.992 | D | 0.31 | neutral | None | None | None | None | N |
| Q/Y | 0.3045 | likely_benign | 0.2724 | benign | -0.003 | Destabilizing | 0.739 | D | 0.363 | 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.