Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29198 | 87817;87818;87819 | chr2:178557762;178557761;178557760 | chr2:179422489;179422488;179422487 |
| N2AB | 27557 | 82894;82895;82896 | chr2:178557762;178557761;178557760 | chr2:179422489;179422488;179422487 |
| N2A | 26630 | 80113;80114;80115 | chr2:178557762;178557761;178557760 | chr2:179422489;179422488;179422487 |
| N2B | 20133 | 60622;60623;60624 | chr2:178557762;178557761;178557760 | chr2:179422489;179422488;179422487 |
| Novex-1 | 20258 | 60997;60998;60999 | chr2:178557762;178557761;178557760 | chr2:179422489;179422488;179422487 |
| Novex-2 | 20325 | 61198;61199;61200 | chr2:178557762;178557761;178557760 | chr2:179422489;179422488;179422487 |
| 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/E | None | None | 0.939 | N | 0.487 | 0.269 | 0.322510055762 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/R | rs542970665  |
-0.189 | 0.046 | N | 0.244 | 0.121 | 0.305730143919 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| K/R | rs542970665 |
-0.189 | 0.046 | N | 0.244 | 0.121 | 0.305730143919 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| K/R | rs542970665 |
-0.189 | 0.046 | N | 0.244 | 0.121 | 0.305730143919 | gnomAD-4.0.0 | 6.56452E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46994E-05 | 0 | 0 |
| K/T | None | None | 0.991 | N | 0.729 | 0.302 | 0.300449992093 | gnomAD-4.0.0 | 4.8013E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25002E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.9064 | likely_pathogenic | 0.9345 | pathogenic | -0.25 | Destabilizing | 0.953 | D | 0.602 | neutral | None | None | None | None | N |
| K/C | 0.9429 | likely_pathogenic | 0.9599 | pathogenic | -0.186 | Destabilizing | 0.999 | D | 0.767 | deleterious | None | None | None | None | N |
| K/D | 0.9584 | likely_pathogenic | 0.971 | pathogenic | -0.116 | Destabilizing | 0.993 | D | 0.739 | prob.delet. | None | None | None | None | N |
| K/E | 0.8462 | likely_pathogenic | 0.892 | pathogenic | -0.046 | Destabilizing | 0.939 | D | 0.487 | neutral | N | 0.465657565 | None | None | N |
| K/F | 0.9826 | likely_pathogenic | 0.987 | pathogenic | -0.054 | Destabilizing | 0.999 | D | 0.741 | deleterious | None | None | None | None | N |
| K/G | 0.9343 | likely_pathogenic | 0.9546 | pathogenic | -0.58 | Destabilizing | 0.993 | D | 0.701 | prob.neutral | None | None | None | None | N |
| K/H | 0.5686 | likely_pathogenic | 0.6297 | pathogenic | -0.976 | Destabilizing | 0.998 | D | 0.709 | prob.delet. | None | None | None | None | N |
| K/I | 0.8884 | likely_pathogenic | 0.9195 | pathogenic | 0.584 | Stabilizing | 0.991 | D | 0.759 | deleterious | N | 0.475963914 | None | None | N |
| K/L | 0.862 | likely_pathogenic | 0.8968 | pathogenic | 0.584 | Stabilizing | 0.986 | D | 0.701 | prob.neutral | None | None | None | None | N |
| K/M | 0.7826 | likely_pathogenic | 0.8368 | pathogenic | 0.478 | Stabilizing | 0.999 | D | 0.698 | prob.neutral | None | None | None | None | N |
| K/N | 0.8963 | likely_pathogenic | 0.9292 | pathogenic | -0.123 | Destabilizing | 0.982 | D | 0.614 | neutral | N | 0.508917956 | None | None | N |
| K/P | 0.9524 | likely_pathogenic | 0.9634 | pathogenic | 0.337 | Stabilizing | 0.998 | D | 0.745 | deleterious | None | None | None | None | N |
| K/Q | 0.5021 | ambiguous | 0.5871 | pathogenic | -0.234 | Destabilizing | 0.982 | D | 0.599 | neutral | N | 0.47102639 | None | None | N |
| K/R | 0.099 | likely_benign | 0.1072 | benign | -0.452 | Destabilizing | 0.046 | N | 0.244 | neutral | N | 0.514113132 | None | None | N |
| K/S | 0.923 | likely_pathogenic | 0.9505 | pathogenic | -0.665 | Destabilizing | 0.953 | D | 0.563 | neutral | None | None | None | None | N |
| K/T | 0.6936 | likely_pathogenic | 0.7741 | pathogenic | -0.408 | Destabilizing | 0.991 | D | 0.729 | prob.delet. | N | 0.437897646 | None | None | N |
| K/V | 0.843 | likely_pathogenic | 0.8837 | pathogenic | 0.337 | Stabilizing | 0.993 | D | 0.759 | deleterious | None | None | None | None | N |
| K/W | 0.9583 | likely_pathogenic | 0.9686 | pathogenic | 0.011 | Stabilizing | 0.999 | D | 0.761 | deleterious | None | None | None | None | N |
| K/Y | 0.9285 | likely_pathogenic | 0.9465 | pathogenic | 0.303 | Stabilizing | 0.998 | D | 0.765 | deleterious | 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.