Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30516 | 91771;91772;91773 | chr2:178550985;178550984;178550983 | chr2:179415712;179415711;179415710 |
| N2AB | 28875 | 86848;86849;86850 | chr2:178550985;178550984;178550983 | chr2:179415712;179415711;179415710 |
| N2A | 27948 | 84067;84068;84069 | chr2:178550985;178550984;178550983 | chr2:179415712;179415711;179415710 |
| N2B | 21451 | 64576;64577;64578 | chr2:178550985;178550984;178550983 | chr2:179415712;179415711;179415710 |
| Novex-1 | 21576 | 64951;64952;64953 | chr2:178550985;178550984;178550983 | chr2:179415712;179415711;179415710 |
| Novex-2 | 21643 | 65152;65153;65154 | chr2:178550985;178550984;178550983 | chr2:179415712;179415711;179415710 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | None | None | 0.969 | N | 0.583 | 0.315 | 0.560453403006 | gnomAD-4.0.0 | 1.5936E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78102E-05 | None | 0 | 0 | 0 | 0 | 0 |
| M/V | None | None | 0.969 | N | 0.579 | 0.239 | 0.55355060856 | gnomAD-4.0.0 | 1.59315E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86033E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.4441 | ambiguous | 0.4102 | ambiguous | -1.078 | Destabilizing | 0.976 | D | 0.603 | neutral | None | None | None | None | N |
| M/C | 0.7712 | likely_pathogenic | 0.727 | pathogenic | -0.993 | Destabilizing | 0.999 | D | 0.702 | prob.delet. | None | None | None | None | N |
| M/D | 0.913 | likely_pathogenic | 0.8977 | pathogenic | 0.186 | Stabilizing | 0.997 | D | 0.746 | deleterious | None | None | None | None | N |
| M/E | 0.684 | likely_pathogenic | 0.6231 | pathogenic | 0.195 | Stabilizing | 0.997 | D | 0.617 | neutral | None | None | None | None | N |
| M/F | 0.4319 | ambiguous | 0.4146 | ambiguous | -0.248 | Destabilizing | 0.997 | D | 0.585 | neutral | None | None | None | None | N |
| M/G | 0.7483 | likely_pathogenic | 0.717 | pathogenic | -1.361 | Destabilizing | 0.99 | D | 0.686 | prob.delet. | None | None | None | None | N |
| M/H | 0.6559 | likely_pathogenic | 0.6018 | pathogenic | -0.427 | Destabilizing | 0.999 | D | 0.769 | deleterious | None | None | None | None | N |
| M/I | 0.4312 | ambiguous | 0.3905 | ambiguous | -0.385 | Destabilizing | 0.969 | D | 0.583 | neutral | N | 0.392120576 | None | None | N |
| M/K | 0.3966 | ambiguous | 0.3486 | ambiguous | 0.004 | Stabilizing | 0.987 | D | 0.661 | prob.neutral | N | 0.420421898 | None | None | N |
| M/L | 0.1123 | likely_benign | 0.1049 | benign | -0.385 | Destabilizing | 0.855 | D | 0.304 | neutral | N | 0.421672692 | None | None | N |
| M/N | 0.599 | likely_pathogenic | 0.5646 | pathogenic | 0.101 | Stabilizing | 0.997 | D | 0.724 | deleterious | None | None | None | None | N |
| M/P | 0.7773 | likely_pathogenic | 0.7217 | pathogenic | -0.586 | Destabilizing | 0.997 | D | 0.729 | deleterious | None | None | None | None | N |
| M/Q | 0.3688 | ambiguous | 0.3162 | benign | 0.024 | Stabilizing | 0.997 | D | 0.565 | neutral | None | None | None | None | N |
| M/R | 0.4394 | ambiguous | 0.3917 | ambiguous | 0.424 | Stabilizing | 0.996 | D | 0.595 | neutral | N | 0.483758513 | None | None | N |
| M/S | 0.5012 | ambiguous | 0.4606 | ambiguous | -0.517 | Destabilizing | 0.99 | D | 0.579 | neutral | None | None | None | None | N |
| M/T | 0.2381 | likely_benign | 0.2143 | benign | -0.389 | Destabilizing | 0.987 | D | 0.642 | neutral | N | 0.36656877 | None | None | N |
| M/V | 0.1138 | likely_benign | 0.104 | benign | -0.586 | Destabilizing | 0.969 | D | 0.579 | neutral | N | 0.407644602 | None | None | N |
| M/W | 0.7594 | likely_pathogenic | 0.7378 | pathogenic | -0.201 | Destabilizing | 0.999 | D | 0.716 | prob.delet. | None | None | None | None | N |
| M/Y | 0.6875 | likely_pathogenic | 0.6517 | pathogenic | -0.139 | Destabilizing | 0.997 | D | 0.687 | prob.delet. | 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.