Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6285 | 19078;19079;19080 | chr2:178729303;178729302;178729301 | chr2:179594030;179594029;179594028 |
| N2AB | 5968 | 18127;18128;18129 | chr2:178729303;178729302;178729301 | chr2:179594030;179594029;179594028 |
| N2A | 5041 | 15346;15347;15348 | chr2:178729303;178729302;178729301 | chr2:179594030;179594029;179594028 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/I | None | None | 0.171 | N | 0.591 | 0.15 | 0.501624679856 | gnomAD-4.0.0 | 6.85758E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.01164E-07 | 0 | 0 |
| R/S | None | None | 0.012 | N | 0.496 | 0.147 | 0.104622674875 | gnomAD-4.0.0 | 1.59963E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.44163E-05 | 0 |
| R/T | rs2079958809  |
None | None | N | 0.331 | 0.179 | 0.360565625551 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/T | rs2079958809 |
None | None | N | 0.331 | 0.179 | 0.360565625551 | gnomAD-4.0.0 | 7.4516E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.01893E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.1734 | likely_benign | 0.1657 | benign | -0.431 | Destabilizing | 0.016 | N | 0.426 | neutral | None | None | None | None | N |
| R/C | 0.1682 | likely_benign | 0.1792 | benign | -0.332 | Destabilizing | 0.864 | D | 0.54 | neutral | None | None | None | None | N |
| R/D | 0.3367 | likely_benign | 0.3498 | ambiguous | 0.069 | Stabilizing | 0.072 | N | 0.556 | neutral | None | None | None | None | N |
| R/E | 0.1849 | likely_benign | 0.1864 | benign | 0.159 | Stabilizing | 0.016 | N | 0.543 | neutral | None | None | None | None | N |
| R/F | 0.2901 | likely_benign | 0.3183 | benign | -0.453 | Destabilizing | 0.356 | N | 0.559 | neutral | None | None | None | None | N |
| R/G | 0.1417 | likely_benign | 0.1365 | benign | -0.695 | Destabilizing | 0.055 | N | 0.539 | neutral | N | 0.506203348 | None | None | N |
| R/H | 0.0836 | likely_benign | 0.0869 | benign | -1.083 | Destabilizing | 0.356 | N | 0.613 | neutral | None | None | None | None | N |
| R/I | 0.1246 | likely_benign | 0.1307 | benign | 0.257 | Stabilizing | 0.171 | N | 0.591 | neutral | N | 0.504179432 | None | None | N |
| R/K | 0.0797 | likely_benign | 0.0752 | benign | -0.39 | Destabilizing | None | N | 0.227 | neutral | N | 0.479915706 | None | None | N |
| R/L | 0.1393 | likely_benign | 0.1425 | benign | 0.257 | Stabilizing | 0.016 | N | 0.503 | neutral | None | None | None | None | N |
| R/M | 0.1335 | likely_benign | 0.1342 | benign | -0.036 | Destabilizing | 0.628 | D | 0.589 | neutral | None | None | None | None | N |
| R/N | 0.2611 | likely_benign | 0.2713 | benign | 0.147 | Stabilizing | 0.072 | N | 0.547 | neutral | None | None | None | None | N |
| R/P | 0.4583 | ambiguous | 0.4516 | ambiguous | 0.049 | Stabilizing | None | N | 0.369 | neutral | None | None | None | None | N |
| R/Q | 0.0866 | likely_benign | 0.0847 | benign | -0.064 | Destabilizing | 0.038 | N | 0.573 | neutral | None | None | None | None | N |
| R/S | 0.1985 | likely_benign | 0.1963 | benign | -0.505 | Destabilizing | 0.012 | N | 0.496 | neutral | N | 0.472488301 | None | None | N |
| R/T | 0.0841 | likely_benign | 0.085 | benign | -0.253 | Destabilizing | None | N | 0.331 | neutral | N | 0.419405965 | None | None | N |
| R/V | 0.1581 | likely_benign | 0.158 | benign | 0.049 | Stabilizing | 0.038 | N | 0.541 | neutral | None | None | None | None | N |
| R/W | 0.1169 | likely_benign | 0.1198 | benign | -0.244 | Destabilizing | 0.864 | D | 0.553 | neutral | None | None | None | None | N |
| R/Y | 0.2209 | likely_benign | 0.2399 | benign | 0.1 | Stabilizing | 0.356 | N | 0.555 | 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.