Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32017 | 96274;96275;96276 | chr2:178544095;178544094;178544093 | chr2:179408822;179408821;179408820 |
| N2AB | 30376 | 91351;91352;91353 | chr2:178544095;178544094;178544093 | chr2:179408822;179408821;179408820 |
| N2A | 29449 | 88570;88571;88572 | chr2:178544095;178544094;178544093 | chr2:179408822;179408821;179408820 |
| N2B | 22952 | 69079;69080;69081 | chr2:178544095;178544094;178544093 | chr2:179408822;179408821;179408820 |
| Novex-1 | 23077 | 69454;69455;69456 | chr2:178544095;178544094;178544093 | chr2:179408822;179408821;179408820 |
| Novex-2 | 23144 | 69655;69656;69657 | chr2:178544095;178544094;178544093 | chr2:179408822;179408821;179408820 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/V | rs1192866113  |
-0.264 | 0.22 | N | 0.351 | 0.213 | 0.446111551642 | gnomAD-2.1.1 | 6.37E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 5.75374E-04 | 0 | 0 |
| A/V | rs1192866113 |
-0.264 | 0.22 | N | 0.351 | 0.213 | 0.446111551642 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 1.88395E-04 | 0 | 0 | 0 | 0 |
| A/V | rs1192866113 |
-0.264 | 0.22 | N | 0.351 | 0.213 | 0.446111551642 | gnomAD-4.0.0 | 1.31489E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88395E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5121 | ambiguous | 0.4724 | ambiguous | -0.749 | Destabilizing | 0.909 | D | 0.421 | neutral | None | None | None | None | N |
| A/D | 0.3126 | likely_benign | 0.2482 | benign | -0.579 | Destabilizing | 0.003 | N | 0.259 | neutral | None | None | None | None | N |
| A/E | 0.4297 | ambiguous | 0.3427 | ambiguous | -0.729 | Destabilizing | 0.124 | N | 0.39 | neutral | N | 0.493052787 | None | None | N |
| A/F | 0.5517 | ambiguous | 0.49 | ambiguous | -0.858 | Destabilizing | 0.726 | D | 0.541 | neutral | None | None | None | None | N |
| A/G | 0.1547 | likely_benign | 0.1379 | benign | -0.231 | Destabilizing | 0.124 | N | 0.347 | neutral | N | 0.494266296 | None | None | N |
| A/H | 0.5324 | ambiguous | 0.4721 | ambiguous | -0.24 | Destabilizing | 0.909 | D | 0.563 | neutral | None | None | None | None | N |
| A/I | 0.5159 | ambiguous | 0.4323 | ambiguous | -0.318 | Destabilizing | 0.567 | D | 0.403 | neutral | None | None | None | None | N |
| A/K | 0.7003 | likely_pathogenic | 0.5999 | pathogenic | -0.629 | Destabilizing | 0.396 | N | 0.363 | neutral | None | None | None | None | N |
| A/L | 0.291 | likely_benign | 0.2454 | benign | -0.318 | Destabilizing | 0.272 | N | 0.357 | neutral | None | None | None | None | N |
| A/M | 0.3811 | ambiguous | 0.3235 | benign | -0.486 | Destabilizing | 0.968 | D | 0.449 | neutral | None | None | None | None | N |
| A/N | 0.3041 | likely_benign | 0.2654 | benign | -0.282 | Destabilizing | 0.396 | N | 0.499 | neutral | None | None | None | None | N |
| A/P | 0.1902 | likely_benign | 0.1767 | benign | -0.25 | Destabilizing | 0.002 | N | 0.22 | neutral | N | 0.494613012 | None | None | N |
| A/Q | 0.4459 | ambiguous | 0.3885 | ambiguous | -0.554 | Destabilizing | 0.567 | D | 0.401 | neutral | None | None | None | None | N |
| A/R | 0.6219 | likely_pathogenic | 0.5372 | ambiguous | -0.163 | Destabilizing | 0.567 | D | 0.401 | neutral | None | None | None | None | N |
| A/S | 0.0943 | likely_benign | 0.0871 | benign | -0.45 | Destabilizing | 0.001 | N | 0.228 | neutral | N | 0.492359354 | None | None | N |
| A/T | 0.1459 | likely_benign | 0.119 | benign | -0.527 | Destabilizing | 0.124 | N | 0.384 | neutral | N | 0.493572862 | None | None | N |
| A/V | 0.2515 | likely_benign | 0.2064 | benign | -0.25 | Destabilizing | 0.22 | N | 0.351 | neutral | N | 0.493919579 | None | None | N |
| A/W | 0.7878 | likely_pathogenic | 0.7398 | pathogenic | -0.995 | Destabilizing | 0.968 | D | 0.681 | prob.neutral | None | None | None | None | N |
| A/Y | 0.6032 | likely_pathogenic | 0.5419 | ambiguous | -0.659 | Destabilizing | 0.726 | D | 0.548 | 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.