Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30314 | 91165;91166;91167 | chr2:178551960;178551959;178551958 | chr2:179416687;179416686;179416685 |
| N2AB | 28673 | 86242;86243;86244 | chr2:178551960;178551959;178551958 | chr2:179416687;179416686;179416685 |
| N2A | 27746 | 83461;83462;83463 | chr2:178551960;178551959;178551958 | chr2:179416687;179416686;179416685 |
| N2B | 21249 | 63970;63971;63972 | chr2:178551960;178551959;178551958 | chr2:179416687;179416686;179416685 |
| Novex-1 | 21374 | 64345;64346;64347 | chr2:178551960;178551959;178551958 | chr2:179416687;179416686;179416685 |
| Novex-2 | 21441 | 64546;64547;64548 | chr2:178551960;178551959;178551958 | chr2:179416687;179416686;179416685 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | None | None | 0.001 | D | 0.176 | 0.133 | 0.208816687407 | gnomAD-4.0.0 | 1.59504E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43349E-05 | 0 |
| S/R | rs927742381  |
None | 0.008 | N | 0.425 | 0.17 | 0.27132560031 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/R | rs927742381 |
None | 0.008 | N | 0.425 | 0.17 | 0.27132560031 | gnomAD-4.0.0 | 6.57419E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46998E-05 | 0 | 0 |
| S/T | rs763875418 |
0.001 | None | N | 0.066 | 0.133 | 0.0401082797425 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/T | rs763875418 |
0.001 | None | N | 0.066 | 0.133 | 0.0401082797425 | gnomAD-4.0.0 | 3.19001E-06 | None | None | None | None | I | None | 0 | 4.57436E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0824 | likely_benign | 0.083 | benign | -0.424 | Destabilizing | None | N | 0.069 | neutral | None | None | None | None | I |
| S/C | 0.1179 | likely_benign | 0.129 | benign | -0.368 | Destabilizing | 0.102 | N | 0.315 | neutral | D | 0.530133882 | None | None | I |
| S/D | 0.1026 | likely_benign | 0.1208 | benign | 0.67 | Stabilizing | 0.004 | N | 0.217 | neutral | None | None | None | None | I |
| S/E | 0.1798 | likely_benign | 0.2134 | benign | 0.678 | Stabilizing | 0.004 | N | 0.166 | neutral | None | None | None | None | I |
| S/F | 0.2732 | likely_benign | 0.3434 | ambiguous | -0.799 | Destabilizing | 0.021 | N | 0.538 | neutral | None | None | None | None | I |
| S/G | 0.0713 | likely_benign | 0.0701 | benign | -0.631 | Destabilizing | 0.001 | N | 0.176 | neutral | D | 0.529613807 | None | None | I |
| S/H | 0.1491 | likely_benign | 0.1896 | benign | -0.868 | Destabilizing | 0.069 | N | 0.316 | neutral | None | None | None | None | I |
| S/I | 0.1821 | likely_benign | 0.2265 | benign | 0.011 | Stabilizing | None | N | 0.232 | neutral | N | 0.482983758 | None | None | I |
| S/K | 0.2314 | likely_benign | 0.2963 | benign | -0.039 | Destabilizing | None | N | 0.081 | neutral | None | None | None | None | I |
| S/L | 0.1407 | likely_benign | 0.1577 | benign | 0.011 | Stabilizing | None | N | 0.139 | neutral | None | None | None | None | I |
| S/M | 0.1946 | likely_benign | 0.2205 | benign | -0.163 | Destabilizing | 0.069 | N | 0.339 | neutral | None | None | None | None | I |
| S/N | 0.0553 | likely_benign | 0.0607 | benign | -0.119 | Destabilizing | None | N | 0.073 | neutral | D | 0.528400299 | None | None | I |
| S/P | 0.0924 | likely_benign | 0.0893 | benign | -0.102 | Destabilizing | None | N | 0.103 | neutral | None | None | None | None | I |
| S/Q | 0.2145 | likely_benign | 0.251 | benign | -0.138 | Destabilizing | 0.01 | N | 0.265 | neutral | None | None | None | None | I |
| S/R | 0.2589 | likely_benign | 0.3372 | benign | -0.018 | Destabilizing | 0.008 | N | 0.425 | neutral | N | 0.48871775 | None | None | I |
| S/T | 0.0751 | likely_benign | 0.0834 | benign | -0.182 | Destabilizing | None | N | 0.066 | neutral | N | 0.498770825 | None | None | I |
| S/V | 0.165 | likely_benign | 0.1965 | benign | -0.102 | Destabilizing | None | N | 0.141 | neutral | None | None | None | None | I |
| S/W | 0.3804 | ambiguous | 0.4403 | ambiguous | -0.843 | Destabilizing | 0.633 | D | 0.405 | neutral | None | None | None | None | I |
| S/Y | 0.1736 | likely_benign | 0.2379 | benign | -0.488 | Destabilizing | 0.131 | N | 0.569 | 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.