Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15066 | 45421;45422;45423 | chr2:178621628;178621627;178621626 | chr2:179486355;179486354;179486353 |
| N2AB | 13425 | 40498;40499;40500 | chr2:178621628;178621627;178621626 | chr2:179486355;179486354;179486353 |
| N2A | 12498 | 37717;37718;37719 | chr2:178621628;178621627;178621626 | chr2:179486355;179486354;179486353 |
| N2B | 6001 | 18226;18227;18228 | chr2:178621628;178621627;178621626 | chr2:179486355;179486354;179486353 |
| Novex-1 | 6126 | 18601;18602;18603 | chr2:178621628;178621627;178621626 | chr2:179486355;179486354;179486353 |
| Novex-2 | 6193 | 18802;18803;18804 | chr2:178621628;178621627;178621626 | chr2:179486355;179486354;179486353 |
| 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/E | rs746860214  |
-0.747 | 1.0 | D | 0.66 | 0.455 | None | gnomAD-2.1.1 | 8.08E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| G/E | rs746860214 |
-0.747 | 1.0 | D | 0.66 | 0.455 | None | gnomAD-3.1.2 | 1.98E-05 | None | None | None | None | N | None | 7.25E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/E | rs746860214 |
-0.747 | 1.0 | D | 0.66 | 0.455 | None | gnomAD-4.0.0 | 1.97623E-05 | None | None | None | None | N | None | 7.25163E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs768414586 |
-0.521 | 1.0 | D | 0.637 | 0.496 | 0.85265843411 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| G/R | rs768414586 |
-0.521 | 1.0 | D | 0.637 | 0.496 | 0.85265843411 | gnomAD-4.0.0 | 1.36935E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79982E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2415 | likely_benign | 0.2377 | benign | -0.779 | Destabilizing | 1.0 | D | 0.559 | neutral | D | 0.67816328 | None | None | N |
| G/C | 0.4977 | ambiguous | 0.5403 | ambiguous | -0.988 | Destabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| G/D | 0.165 | likely_benign | 0.1528 | benign | -1.142 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | N |
| G/E | 0.2491 | likely_benign | 0.2385 | benign | -1.183 | Destabilizing | 1.0 | D | 0.66 | neutral | D | 0.546166668 | None | None | N |
| G/F | 0.837 | likely_pathogenic | 0.846 | pathogenic | -1.075 | Destabilizing | 1.0 | D | 0.617 | neutral | None | None | None | None | N |
| G/H | 0.633 | likely_pathogenic | 0.6484 | pathogenic | -1.34 | Destabilizing | 1.0 | D | 0.629 | neutral | None | None | None | None | N |
| G/I | 0.6934 | likely_pathogenic | 0.6963 | pathogenic | -0.347 | Destabilizing | 1.0 | D | 0.625 | neutral | None | None | None | None | N |
| G/K | 0.5716 | likely_pathogenic | 0.5836 | pathogenic | -1.132 | Destabilizing | 1.0 | D | 0.66 | neutral | None | None | None | None | N |
| G/L | 0.7079 | likely_pathogenic | 0.7163 | pathogenic | -0.347 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| G/M | 0.7373 | likely_pathogenic | 0.7442 | pathogenic | -0.33 | Destabilizing | 1.0 | D | 0.636 | neutral | None | None | None | None | N |
| G/N | 0.2532 | likely_benign | 0.2511 | benign | -0.852 | Destabilizing | 1.0 | D | 0.611 | neutral | None | None | None | None | N |
| G/P | 0.9781 | likely_pathogenic | 0.9772 | pathogenic | -0.449 | Destabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| G/Q | 0.471 | ambiguous | 0.4788 | ambiguous | -1.025 | Destabilizing | 1.0 | D | 0.638 | neutral | None | None | None | None | N |
| G/R | 0.4719 | ambiguous | 0.4763 | ambiguous | -0.851 | Destabilizing | 1.0 | D | 0.637 | neutral | D | 0.685873056 | None | None | N |
| G/S | 0.1678 | likely_benign | 0.1641 | benign | -1.164 | Destabilizing | 1.0 | D | 0.601 | neutral | None | None | None | None | N |
| G/T | 0.4442 | ambiguous | 0.4439 | ambiguous | -1.118 | Destabilizing | 1.0 | D | 0.658 | neutral | None | None | None | None | N |
| G/V | 0.5266 | ambiguous | 0.5169 | ambiguous | -0.449 | Destabilizing | 1.0 | D | 0.663 | neutral | D | 0.694671397 | None | None | N |
| G/W | 0.6597 | likely_pathogenic | 0.6805 | pathogenic | -1.425 | Destabilizing | 1.0 | D | 0.635 | neutral | D | 0.780364385 | None | None | N |
| G/Y | 0.6473 | likely_pathogenic | 0.6667 | pathogenic | -1.0 | Destabilizing | 1.0 | D | 0.618 | 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.