Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5494 | 16705;16706;16707 | chr2:178732581;178732580;178732579 | chr2:179597308;179597307;179597306 |
| N2AB | 5177 | 15754;15755;15756 | chr2:178732581;178732580;178732579 | chr2:179597308;179597307;179597306 |
| N2A | 4250 | 12973;12974;12975 | chr2:178732581;178732580;178732579 | chr2:179597308;179597307;179597306 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs727504697  |
-0.108 | 1.0 | N | 0.729 | 0.415 | 0.564986160551 | gnomAD-2.1.1 | 3.93E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.65785E-04 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs727504697 |
-0.108 | 1.0 | N | 0.729 | 0.415 | 0.564986160551 | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.15964E-03 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs727504697 |
-0.108 | 1.0 | N | 0.729 | 0.415 | 0.564986160551 | gnomAD-4.0.0 | 1.05361E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.79295E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1199 | likely_benign | 0.1294 | benign | -0.245 | Destabilizing | 0.999 | D | 0.515 | neutral | N | 0.448802499 | None | None | N |
| G/C | 0.2675 | likely_benign | 0.3115 | benign | -0.937 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| G/D | 0.1339 | likely_benign | 0.1823 | benign | -0.078 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| G/E | 0.1568 | likely_benign | 0.212 | benign | -0.212 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | N | 0.417959517 | None | None | N |
| G/F | 0.4298 | ambiguous | 0.5356 | ambiguous | -0.867 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| G/H | 0.3061 | likely_benign | 0.3781 | ambiguous | -0.281 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| G/I | 0.2191 | likely_benign | 0.2716 | benign | -0.41 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| G/K | 0.264 | likely_benign | 0.3489 | ambiguous | -0.531 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| G/L | 0.3507 | ambiguous | 0.4207 | ambiguous | -0.41 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| G/M | 0.4073 | ambiguous | 0.4815 | ambiguous | -0.657 | Destabilizing | 0.999 | D | 0.613 | neutral | None | None | None | None | N |
| G/N | 0.1921 | likely_benign | 0.2338 | benign | -0.286 | Destabilizing | 1.0 | D | 0.674 | neutral | None | None | None | None | N |
| G/P | 0.4142 | ambiguous | 0.448 | ambiguous | -0.329 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| G/Q | 0.2313 | likely_benign | 0.2903 | benign | -0.46 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| G/R | 0.189 | likely_benign | 0.2472 | benign | -0.22 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.430390097 | None | None | N |
| G/S | 0.0847 | likely_benign | 0.0923 | benign | -0.516 | Destabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| G/T | 0.1479 | likely_benign | 0.1632 | benign | -0.565 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| G/V | 0.1706 | likely_benign | 0.203 | benign | -0.329 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | N | 0.504965213 | None | None | N |
| G/W | 0.3555 | ambiguous | 0.4569 | ambiguous | -0.984 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| G/Y | 0.3211 | likely_benign | 0.4339 | ambiguous | -0.669 | Destabilizing | 1.0 | D | 0.741 | deleterious | 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.