Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21483 | 64672;64673;64674 | chr2:178585297;178585296;178585295 | chr2:179450024;179450023;179450022 |
| N2AB | 19842 | 59749;59750;59751 | chr2:178585297;178585296;178585295 | chr2:179450024;179450023;179450022 |
| N2A | 18915 | 56968;56969;56970 | chr2:178585297;178585296;178585295 | chr2:179450024;179450023;179450022 |
| N2B | 12418 | 37477;37478;37479 | chr2:178585297;178585296;178585295 | chr2:179450024;179450023;179450022 |
| Novex-1 | 12543 | 37852;37853;37854 | chr2:178585297;178585296;178585295 | chr2:179450024;179450023;179450022 |
| Novex-2 | 12610 | 38053;38054;38055 | chr2:178585297;178585296;178585295 | chr2:179450024;179450023;179450022 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/I | None | None | 1.0 | N | 0.715 | 0.488 | 0.418221603839 | gnomAD-4.0.0 | 6.85315E-07 | None | None | None | None | N | None | 3.00643E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/R | rs1368411917  |
-0.3 | 0.999 | N | 0.571 | 0.21 | 0.291694819147 | gnomAD-2.1.1 | 8.1E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 1.66556E-04 |
| K/R | rs1368411917 |
-0.3 | 0.999 | N | 0.571 | 0.21 | 0.291694819147 | gnomAD-4.0.0 | 2.05595E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80076E-06 | 0 | 1.65915E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.7402 | likely_pathogenic | 0.6317 | pathogenic | -0.418 | Destabilizing | 0.999 | D | 0.666 | neutral | None | None | None | None | N |
| K/C | 0.878 | likely_pathogenic | 0.8472 | pathogenic | -0.596 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| K/D | 0.8633 | likely_pathogenic | 0.799 | pathogenic | -0.08 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| K/E | 0.7231 | likely_pathogenic | 0.5619 | ambiguous | 0.054 | Stabilizing | 0.999 | D | 0.629 | neutral | N | 0.490454333 | None | None | N |
| K/F | 0.9407 | likely_pathogenic | 0.9141 | pathogenic | -0.036 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| K/G | 0.8416 | likely_pathogenic | 0.7677 | pathogenic | -0.783 | Destabilizing | 1.0 | D | 0.648 | neutral | None | None | None | None | N |
| K/H | 0.5624 | ambiguous | 0.4956 | ambiguous | -0.919 | Destabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| K/I | 0.6887 | likely_pathogenic | 0.5805 | pathogenic | 0.527 | Stabilizing | 1.0 | D | 0.715 | prob.delet. | N | 0.458490044 | None | None | N |
| K/L | 0.6672 | likely_pathogenic | 0.5775 | pathogenic | 0.527 | Stabilizing | 1.0 | D | 0.648 | neutral | None | None | None | None | N |
| K/M | 0.4743 | ambiguous | 0.3865 | ambiguous | 0.119 | Stabilizing | 1.0 | D | 0.637 | neutral | None | None | None | None | N |
| K/N | 0.7414 | likely_pathogenic | 0.631 | pathogenic | -0.542 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | N | 0.473850085 | None | None | N |
| K/P | 0.7908 | likely_pathogenic | 0.7061 | pathogenic | 0.242 | Stabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| K/Q | 0.3985 | ambiguous | 0.3026 | benign | -0.487 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | N | 0.498401813 | None | None | N |
| K/R | 0.1514 | likely_benign | 0.1292 | benign | -0.508 | Destabilizing | 0.999 | D | 0.571 | neutral | N | 0.49976725 | None | None | N |
| K/S | 0.7866 | likely_pathogenic | 0.6851 | pathogenic | -1.111 | Destabilizing | 0.999 | D | 0.684 | prob.neutral | None | None | None | None | N |
| K/T | 0.4059 | ambiguous | 0.3084 | benign | -0.768 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | N | 0.426845572 | None | None | N |
| K/V | 0.6179 | likely_pathogenic | 0.5243 | ambiguous | 0.242 | Stabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| K/W | 0.9241 | likely_pathogenic | 0.8995 | pathogenic | 0.002 | Stabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| K/Y | 0.8219 | likely_pathogenic | 0.7595 | pathogenic | 0.294 | Stabilizing | 1.0 | D | 0.672 | 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.