Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2183 | 6772;6773;6774 | chr2:178775164;178775163;178775162 | chr2:179639891;179639890;179639889 |
| N2AB | 2183 | 6772;6773;6774 | chr2:178775164;178775163;178775162 | chr2:179639891;179639890;179639889 |
| N2A | 2183 | 6772;6773;6774 | chr2:178775164;178775163;178775162 | chr2:179639891;179639890;179639889 |
| N2B | 2137 | 6634;6635;6636 | chr2:178775164;178775163;178775162 | chr2:179639891;179639890;179639889 |
| Novex-1 | 2137 | 6634;6635;6636 | chr2:178775164;178775163;178775162 | chr2:179639891;179639890;179639889 |
| Novex-2 | 2137 | 6634;6635;6636 | chr2:178775164;178775163;178775162 | chr2:179639891;179639890;179639889 |
| Novex-3 | 2183 | 6772;6773;6774 | chr2:178775164;178775163;178775162 | chr2:179639891;179639890;179639889 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs940814498  |
-0.354 | 0.245 | N | 0.525 | 0.12 | 0.618912533594 | gnomAD-2.1.1 | 1.06E-05 | None | None | None | None | N | None | 4.01E-05 | 2.82E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/I | rs940814498 |
-0.354 | 0.245 | N | 0.525 | 0.12 | 0.618912533594 | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 9.66E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 2.06868E-04 | 0 |
| V/I | rs940814498 |
-0.354 | 0.245 | N | 0.525 | 0.12 | 0.618912533594 | gnomAD-4.0.0 | 8.67516E-06 | None | None | None | None | N | None | 1.06863E-04 | 5.001E-05 | None | 0 | 0 | None | 0 | 0 | 1.69496E-06 | 1.09782E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2259 | likely_benign | 0.2451 | benign | -1.364 | Destabilizing | 0.009 | N | 0.127 | neutral | N | 0.499855644 | None | None | N |
| V/C | 0.8401 | likely_pathogenic | 0.8541 | pathogenic | -0.873 | Destabilizing | 0.994 | D | 0.501 | neutral | None | None | None | None | N |
| V/D | 0.6825 | likely_pathogenic | 0.7453 | pathogenic | -1.057 | Destabilizing | 0.846 | D | 0.596 | neutral | D | 0.63813613 | None | None | N |
| V/E | 0.4453 | ambiguous | 0.483 | ambiguous | -1.0 | Destabilizing | 0.51 | D | 0.507 | neutral | None | None | None | None | N |
| V/F | 0.2937 | likely_benign | 0.3385 | benign | -0.896 | Destabilizing | 0.846 | D | 0.554 | neutral | D | 0.555128476 | None | None | N |
| V/G | 0.4922 | ambiguous | 0.5399 | ambiguous | -1.737 | Destabilizing | 0.44 | N | 0.558 | neutral | D | 0.637380703 | None | None | N |
| V/H | 0.7381 | likely_pathogenic | 0.7839 | pathogenic | -1.299 | Destabilizing | 0.982 | D | 0.601 | neutral | None | None | None | None | N |
| V/I | 0.0718 | likely_benign | 0.0759 | benign | -0.421 | Destabilizing | 0.245 | N | 0.525 | neutral | N | 0.502745132 | None | None | N |
| V/K | 0.4276 | ambiguous | 0.4657 | ambiguous | -1.147 | Destabilizing | 0.51 | D | 0.521 | neutral | None | None | None | None | N |
| V/L | 0.2442 | likely_benign | 0.2913 | benign | -0.421 | Destabilizing | 0.005 | N | 0.192 | neutral | N | 0.472608332 | None | None | N |
| V/M | 0.1402 | likely_benign | 0.1556 | benign | -0.356 | Destabilizing | 0.879 | D | 0.49 | neutral | None | None | None | None | N |
| V/N | 0.4567 | ambiguous | 0.5227 | ambiguous | -1.051 | Destabilizing | 0.937 | D | 0.627 | neutral | None | None | None | None | N |
| V/P | 0.9801 | likely_pathogenic | 0.9863 | pathogenic | -0.7 | Destabilizing | 0.937 | D | 0.561 | neutral | None | None | None | None | N |
| V/Q | 0.4433 | ambiguous | 0.4721 | ambiguous | -1.102 | Destabilizing | 0.158 | N | 0.41 | neutral | None | None | None | None | N |
| V/R | 0.4075 | ambiguous | 0.4512 | ambiguous | -0.774 | Destabilizing | 0.879 | D | 0.599 | neutral | None | None | None | None | N |
| V/S | 0.3605 | ambiguous | 0.4093 | ambiguous | -1.624 | Destabilizing | 0.51 | D | 0.503 | neutral | None | None | None | None | N |
| V/T | 0.1809 | likely_benign | 0.1962 | benign | -1.444 | Destabilizing | 0.675 | D | 0.464 | neutral | None | None | None | None | N |
| V/W | 0.9374 | likely_pathogenic | 0.955 | pathogenic | -1.181 | Destabilizing | 0.994 | D | 0.658 | neutral | None | None | None | None | N |
| V/Y | 0.7287 | likely_pathogenic | 0.785 | pathogenic | -0.828 | Destabilizing | 0.978 | D | 0.557 | 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.