Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3466 | 10621;10622;10623 | chr2:178757824;178757823;178757822 | chr2:179622551;179622550;179622549 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3420 | 10483;10484;10485 | chr2:178757824;178757823;178757822 | chr2:179622551;179622550;179622549 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | None | None | None | None | None | 0.141 | None | gnomAD-4.0.0 | 1.60981E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.05455E-05 |
| S/N | None | None | None | None | None | 0.09 | None | gnomAD-4.0.0 | 1.60964E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.45345E-05 | 0 |
| S/R | rs760613487  |
0.308 | None | None | None | 0.055 | None | gnomAD-2.1.1 | 4.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.02E-06 | 0 |
| S/T | rs533542171 |
0.245 | None | None | None | 0.099 | None | gnomAD-2.1.1 | 4.1E-06 | None | None | None | None | N | None | 6.51E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/T | rs533542171 |
0.245 | None | None | None | 0.099 | None | 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 |
| S/T | rs533542171 |
0.245 | None | None | None | 0.099 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| S/T | rs533542171 |
0.245 | None | None | None | 0.099 | None | gnomAD-4.0.0 | 6.56711E-06 | None | None | None | None | N | None | 2.40604E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0741 | likely_benign | None | None | -0.464 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/C | 0.1073 | likely_benign | None | None | -0.353 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/D | 0.279 | likely_benign | None | None | 0.746 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/E | 0.2899 | likely_benign | None | None | 0.697 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/F | 0.1055 | likely_benign | None | None | -0.97 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/G | 0.1311 | likely_benign | None | None | -0.613 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/H | 0.1582 | likely_benign | None | None | -0.964 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/I | 0.0555 | likely_benign | None | None | -0.194 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/K | 0.3229 | likely_benign | None | None | -0.194 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/L | 0.0736 | likely_benign | None | None | -0.194 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/M | 0.1146 | likely_benign | None | None | -0.191 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/N | 0.096 | likely_benign | None | None | -0.087 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/P | 0.7337 | likely_pathogenic | None | None | -0.253 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/Q | 0.2494 | likely_benign | None | None | -0.199 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/R | 0.2198 | likely_benign | None | None | -0.116 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/T | 0.066 | likely_benign | None | None | -0.211 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/V | 0.0732 | likely_benign | None | None | -0.253 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/W | 0.3201 | likely_benign | None | None | -0.975 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/Y | 0.1314 | likely_benign | None | None | -0.663 | Destabilizing | None | None | None | None | 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.