Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31441 | 94546;94547;94548 | chr2:178547204;178547203;178547202 | chr2:179411931;179411930;179411929 |
| N2AB | 29800 | 89623;89624;89625 | chr2:178547204;178547203;178547202 | chr2:179411931;179411930;179411929 |
| N2A | 28873 | 86842;86843;86844 | chr2:178547204;178547203;178547202 | chr2:179411931;179411930;179411929 |
| N2B | 22376 | 67351;67352;67353 | chr2:178547204;178547203;178547202 | chr2:179411931;179411930;179411929 |
| Novex-1 | 22501 | 67726;67727;67728 | chr2:178547204;178547203;178547202 | chr2:179411931;179411930;179411929 |
| Novex-2 | 22568 | 67927;67928;67929 | chr2:178547204;178547203;178547202 | chr2:179411931;179411930;179411929 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/F | None | None | 0.055 | N | 0.36 | 0.133 | 0.45349784317 | gnomAD-4.0.0 | 1.59124E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85842E-06 | 0 | 0 |
| I/M | None | None | 0.171 | N | 0.375 | 0.043 | 0.432154444652 | gnomAD-4.0.0 | 2.05262E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.47802E-05 | 0 |
| I/T | rs1388468468  |
-1.358 | None | N | 0.156 | 0.104 | 0.247872288689 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| I/T | rs1388468468 |
-1.358 | None | N | 0.156 | 0.104 | 0.247872288689 | gnomAD-4.0.0 | 8.21044E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.51915E-05 | None | 0 | 0 | 8.9948E-06 | 1.15934E-05 | 0 |
| I/V | None | None | None | N | 0.085 | 0.038 | 0.291694819147 | gnomAD-4.0.0 | 3.18248E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71683E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.1126 | likely_benign | 0.102 | benign | -1.143 | Destabilizing | 0.007 | N | 0.254 | neutral | None | None | None | None | I |
| I/C | 0.4452 | ambiguous | 0.4109 | ambiguous | -0.75 | Destabilizing | 0.356 | N | 0.369 | neutral | None | None | None | None | I |
| I/D | 0.5268 | ambiguous | 0.5121 | ambiguous | -0.297 | Destabilizing | 0.072 | N | 0.425 | neutral | None | None | None | None | I |
| I/E | 0.3972 | ambiguous | 0.3976 | ambiguous | -0.308 | Destabilizing | 0.072 | N | 0.393 | neutral | None | None | None | None | I |
| I/F | 0.1249 | likely_benign | 0.1228 | benign | -0.709 | Destabilizing | 0.055 | N | 0.36 | neutral | N | 0.47967367 | None | None | I |
| I/G | 0.3409 | ambiguous | 0.3131 | benign | -1.426 | Destabilizing | 0.072 | N | 0.395 | neutral | None | None | None | None | I |
| I/H | 0.3336 | likely_benign | 0.3068 | benign | -0.519 | Destabilizing | 0.864 | D | 0.339 | neutral | None | None | None | None | I |
| I/K | 0.2833 | likely_benign | 0.2709 | benign | -0.674 | Destabilizing | 0.072 | N | 0.387 | neutral | None | None | None | None | I |
| I/L | 0.0743 | likely_benign | 0.0771 | benign | -0.467 | Destabilizing | 0.002 | N | 0.207 | neutral | N | 0.433110689 | None | None | I |
| I/M | 0.0682 | likely_benign | 0.0699 | benign | -0.445 | Destabilizing | 0.171 | N | 0.375 | neutral | N | 0.481251352 | None | None | I |
| I/N | 0.1522 | likely_benign | 0.1471 | benign | -0.561 | Destabilizing | 0.055 | N | 0.417 | neutral | N | 0.488099967 | None | None | I |
| I/P | 0.7202 | likely_pathogenic | 0.6713 | pathogenic | -0.659 | Destabilizing | 0.136 | N | 0.441 | neutral | None | None | None | None | I |
| I/Q | 0.2689 | likely_benign | 0.2485 | benign | -0.702 | Destabilizing | 0.356 | N | 0.411 | neutral | None | None | None | None | I |
| I/R | 0.2157 | likely_benign | 0.2028 | benign | -0.123 | Destabilizing | 0.214 | N | 0.423 | neutral | None | None | None | None | I |
| I/S | 0.1136 | likely_benign | 0.1005 | benign | -1.174 | Destabilizing | 0.012 | N | 0.343 | neutral | N | 0.44432776 | None | None | I |
| I/T | 0.0558 | likely_benign | 0.0535 | benign | -1.065 | Destabilizing | None | N | 0.156 | neutral | N | 0.354167115 | None | None | I |
| I/V | 0.0593 | likely_benign | 0.0569 | benign | -0.659 | Destabilizing | None | N | 0.085 | neutral | N | 0.466857903 | None | None | I |
| I/W | 0.6504 | likely_pathogenic | 0.6352 | pathogenic | -0.757 | Destabilizing | 0.864 | D | 0.359 | neutral | None | None | None | None | I |
| I/Y | 0.4252 | ambiguous | 0.4082 | ambiguous | -0.522 | Destabilizing | 0.356 | N | 0.444 | 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.