Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29728 | 89407;89408;89409 | chr2:178553929;178553928;178553927 | chr2:179418656;179418655;179418654 |
| N2AB | 28087 | 84484;84485;84486 | chr2:178553929;178553928;178553927 | chr2:179418656;179418655;179418654 |
| N2A | 27160 | 81703;81704;81705 | chr2:178553929;178553928;178553927 | chr2:179418656;179418655;179418654 |
| N2B | 20663 | 62212;62213;62214 | chr2:178553929;178553928;178553927 | chr2:179418656;179418655;179418654 |
| Novex-1 | 20788 | 62587;62588;62589 | chr2:178553929;178553928;178553927 | chr2:179418656;179418655;179418654 |
| Novex-2 | 20855 | 62788;62789;62790 | chr2:178553929;178553928;178553927 | chr2:179418656;179418655;179418654 |
| 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/S | None | None | 0.999 | N | 0.631 | 0.319 | 0.339074221408 | gnomAD-4.0.0 | 6.90785E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.03351E-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 | 0.759 | likely_pathogenic | 0.7726 | pathogenic | -2.06 | Highly Destabilizing | 1.0 | D | 0.707 | prob.delet. | None | None | None | None | N |
| A/D | 0.9966 | likely_pathogenic | 0.996 | pathogenic | -3.253 | Highly Destabilizing | 1.0 | D | 0.82 | deleterious | N | 0.510397997 | None | None | N |
| A/E | 0.992 | likely_pathogenic | 0.9913 | pathogenic | -3.094 | Highly Destabilizing | 1.0 | D | 0.723 | deleterious | None | None | None | None | N |
| A/F | 0.9781 | likely_pathogenic | 0.9793 | pathogenic | -0.826 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| A/G | 0.5954 | likely_pathogenic | 0.5694 | pathogenic | -1.752 | Destabilizing | 0.999 | D | 0.592 | neutral | N | 0.510397997 | None | None | N |
| A/H | 0.9958 | likely_pathogenic | 0.9953 | pathogenic | -1.661 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| A/I | 0.813 | likely_pathogenic | 0.8562 | pathogenic | -0.472 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| A/K | 0.9975 | likely_pathogenic | 0.9974 | pathogenic | -1.485 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| A/L | 0.7616 | likely_pathogenic | 0.7719 | pathogenic | -0.472 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| A/M | 0.831 | likely_pathogenic | 0.8468 | pathogenic | -1.018 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| A/N | 0.9842 | likely_pathogenic | 0.9849 | pathogenic | -1.959 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| A/P | 0.8463 | likely_pathogenic | 0.8736 | pathogenic | -0.748 | Destabilizing | 1.0 | D | 0.739 | deleterious | N | 0.507863102 | None | None | N |
| A/Q | 0.9859 | likely_pathogenic | 0.9851 | pathogenic | -1.862 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| A/R | 0.9917 | likely_pathogenic | 0.9916 | pathogenic | -1.394 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| A/S | 0.4874 | ambiguous | 0.4698 | ambiguous | -2.208 | Highly Destabilizing | 0.999 | D | 0.631 | neutral | N | 0.509637529 | None | None | N |
| A/T | 0.6686 | likely_pathogenic | 0.7273 | pathogenic | -1.955 | Destabilizing | 1.0 | D | 0.729 | deleterious | N | 0.513744986 | None | None | N |
| A/V | 0.5416 | ambiguous | 0.6065 | pathogenic | -0.748 | Destabilizing | 0.999 | D | 0.665 | prob.neutral | N | 0.511320756 | None | None | N |
| A/W | 0.9984 | likely_pathogenic | 0.9981 | pathogenic | -1.412 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| A/Y | 0.9913 | likely_pathogenic | 0.9904 | pathogenic | -1.038 | Destabilizing | 1.0 | D | 0.839 | 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.