Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29799 | 89620;89621;89622 | chr2:178553610;178553609;178553608 | chr2:179418337;179418336;179418335 |
| N2AB | 28158 | 84697;84698;84699 | chr2:178553610;178553609;178553608 | chr2:179418337;179418336;179418335 |
| N2A | 27231 | 81916;81917;81918 | chr2:178553610;178553609;178553608 | chr2:179418337;179418336;179418335 |
| N2B | 20734 | 62425;62426;62427 | chr2:178553610;178553609;178553608 | chr2:179418337;179418336;179418335 |
| Novex-1 | 20859 | 62800;62801;62802 | chr2:178553610;178553609;178553608 | chr2:179418337;179418336;179418335 |
| Novex-2 | 20926 | 63001;63002;63003 | chr2:178553610;178553609;178553608 | chr2:179418337;179418336;179418335 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/H | None | None | None | N | 0.154 | 0.098 | 0.134241683229 | gnomAD-4.0.0 | 1.20046E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31266E-06 | 0 | 0 |
| N/S | None | None | None | N | 0.174 | 0.111 | 0.0954503805726 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| N/T | rs371949055  |
0.286 | 0.062 | N | 0.289 | 0.075 | None | gnomAD-2.1.1 | 6.37E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.29702E-04 | 0 |
| N/T | rs371949055 |
0.286 | 0.062 | N | 0.289 | 0.075 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| N/T | rs371949055 |
0.286 | 0.062 | N | 0.289 | 0.075 | None | gnomAD-4.0.0 | 1.31413E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.93962E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.1586 | likely_benign | 0.1496 | benign | -0.138 | Destabilizing | 0.035 | N | 0.327 | neutral | None | None | None | None | N |
| N/C | 0.2403 | likely_benign | 0.221 | benign | 0.09 | Stabilizing | 0.824 | D | 0.37 | neutral | None | None | None | None | N |
| N/D | 0.0906 | likely_benign | 0.0912 | benign | 0.109 | Stabilizing | 0.062 | N | 0.313 | neutral | N | 0.396437812 | None | None | N |
| N/E | 0.2336 | likely_benign | 0.2348 | benign | 0.04 | Stabilizing | 0.081 | N | 0.291 | neutral | None | None | None | None | N |
| N/F | 0.4404 | ambiguous | 0.391 | ambiguous | -0.784 | Destabilizing | 0.235 | N | 0.425 | neutral | None | None | None | None | N |
| N/G | 0.1605 | likely_benign | 0.1575 | benign | -0.203 | Destabilizing | 0.035 | N | 0.298 | neutral | None | None | None | None | N |
| N/H | 0.0776 | likely_benign | 0.0749 | benign | -0.235 | Destabilizing | None | N | 0.154 | neutral | N | 0.445349267 | None | None | N |
| N/I | 0.2541 | likely_benign | 0.2192 | benign | -0.068 | Destabilizing | 0.062 | N | 0.444 | neutral | D | 0.52325269 | None | None | N |
| N/K | 0.1642 | likely_benign | 0.1775 | benign | 0.135 | Stabilizing | 0.062 | N | 0.299 | neutral | N | 0.443847757 | None | None | N |
| N/L | 0.1887 | likely_benign | 0.1789 | benign | -0.068 | Destabilizing | 0.001 | N | 0.257 | neutral | None | None | None | None | N |
| N/M | 0.3 | likely_benign | 0.2832 | benign | 0.051 | Stabilizing | 0.38 | N | 0.375 | neutral | None | None | None | None | N |
| N/P | 0.5178 | ambiguous | 0.4724 | ambiguous | -0.071 | Destabilizing | 0.38 | N | 0.4 | neutral | None | None | None | None | N |
| N/Q | 0.1936 | likely_benign | 0.2015 | benign | -0.276 | Destabilizing | 0.38 | N | 0.349 | neutral | None | None | None | None | N |
| N/R | 0.2149 | likely_benign | 0.2179 | benign | 0.187 | Stabilizing | 0.149 | N | 0.351 | neutral | None | None | None | None | N |
| N/S | 0.0752 | likely_benign | 0.0747 | benign | -0.064 | Destabilizing | None | N | 0.174 | neutral | N | 0.454448753 | None | None | N |
| N/T | 0.1154 | likely_benign | 0.1085 | benign | -0.024 | Destabilizing | 0.062 | N | 0.289 | neutral | N | 0.489966836 | None | None | N |
| N/V | 0.2166 | likely_benign | 0.1979 | benign | -0.071 | Destabilizing | 0.081 | N | 0.408 | neutral | None | None | None | None | N |
| N/W | 0.6924 | likely_pathogenic | 0.6587 | pathogenic | -0.925 | Destabilizing | 0.935 | D | 0.428 | neutral | None | None | None | None | N |
| N/Y | 0.1549 | likely_benign | 0.1409 | benign | -0.596 | Destabilizing | 0.188 | N | 0.416 | neutral | N | 0.483067485 | 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.