Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30948 | 93067;93068;93069 | chr2:178548784;178548783;178548782 | chr2:179413511;179413510;179413509 |
| N2AB | 29307 | 88144;88145;88146 | chr2:178548784;178548783;178548782 | chr2:179413511;179413510;179413509 |
| N2A | 28380 | 85363;85364;85365 | chr2:178548784;178548783;178548782 | chr2:179413511;179413510;179413509 |
| N2B | 21883 | 65872;65873;65874 | chr2:178548784;178548783;178548782 | chr2:179413511;179413510;179413509 |
| Novex-1 | 22008 | 66247;66248;66249 | chr2:178548784;178548783;178548782 | chr2:179413511;179413510;179413509 |
| Novex-2 | 22075 | 66448;66449;66450 | chr2:178548784;178548783;178548782 | chr2:179413511;179413510;179413509 |
| 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/D | None | None | 0.989 | N | 0.667 | 0.403 | 0.705984459088 | gnomAD-4.0.0 | 2.05387E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79894E-06 | 0 | 1.65673E-05 |
| A/V | None | None | 0.961 | N | 0.478 | 0.273 | 0.611151671824 | gnomAD-4.0.0 | 6.84625E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99471E-07 | 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 | 0.5157 | ambiguous | 0.5112 | ambiguous | -0.377 | Destabilizing | 1.0 | D | 0.544 | neutral | None | None | None | None | I |
| A/D | 0.6223 | likely_pathogenic | 0.5986 | pathogenic | -0.264 | Destabilizing | 0.989 | D | 0.667 | neutral | N | 0.466853195 | None | None | I |
| A/E | 0.5336 | ambiguous | 0.5227 | ambiguous | -0.23 | Destabilizing | 0.991 | D | 0.613 | neutral | None | None | None | None | I |
| A/F | 0.5484 | ambiguous | 0.5389 | ambiguous | -0.398 | Destabilizing | 0.999 | D | 0.72 | prob.delet. | None | None | None | None | I |
| A/G | 0.1734 | likely_benign | 0.1579 | benign | -0.626 | Destabilizing | 0.961 | D | 0.473 | neutral | N | 0.466546551 | None | None | I |
| A/H | 0.5976 | likely_pathogenic | 0.596 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | I |
| A/I | 0.4274 | ambiguous | 0.3976 | ambiguous | 0.228 | Stabilizing | 0.991 | D | 0.661 | neutral | None | None | None | None | I |
| A/K | 0.6038 | likely_pathogenic | 0.6068 | pathogenic | -0.457 | Destabilizing | 0.991 | D | 0.613 | neutral | None | None | None | None | I |
| A/L | 0.2895 | likely_benign | 0.2828 | benign | 0.228 | Stabilizing | 0.97 | D | 0.573 | neutral | None | None | None | None | I |
| A/M | 0.3752 | ambiguous | 0.3559 | ambiguous | -0.032 | Destabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | I |
| A/N | 0.3833 | ambiguous | 0.3733 | ambiguous | -0.435 | Destabilizing | 0.991 | D | 0.703 | prob.neutral | None | None | None | None | I |
| A/P | 0.3013 | likely_benign | 0.2125 | benign | 0.073 | Stabilizing | 0.151 | N | 0.337 | neutral | N | 0.377927488 | None | None | I |
| A/Q | 0.4622 | ambiguous | 0.458 | ambiguous | -0.439 | Destabilizing | 0.996 | D | 0.67 | neutral | None | None | None | None | I |
| A/R | 0.4897 | ambiguous | 0.4966 | ambiguous | -0.307 | Destabilizing | 0.996 | D | 0.66 | neutral | None | None | None | None | I |
| A/S | 0.1087 | likely_benign | 0.1087 | benign | -0.825 | Destabilizing | 0.489 | N | 0.348 | neutral | N | 0.451595741 | None | None | I |
| A/T | 0.1236 | likely_benign | 0.1188 | benign | -0.675 | Destabilizing | 0.433 | N | 0.319 | neutral | N | 0.43289255 | None | None | I |
| A/V | 0.2363 | likely_benign | 0.2197 | benign | 0.073 | Stabilizing | 0.961 | D | 0.478 | neutral | N | 0.46933614 | None | None | I |
| A/W | 0.8674 | likely_pathogenic | 0.8595 | pathogenic | -0.807 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | I |
| A/Y | 0.6173 | likely_pathogenic | 0.6066 | pathogenic | -0.293 | Destabilizing | 0.999 | D | 0.718 | prob.delet. | 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.