Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25650 | 77173;77174;77175 | chr2:178569184;178569183;178569182 | chr2:179433911;179433910;179433909 |
| N2AB | 24009 | 72250;72251;72252 | chr2:178569184;178569183;178569182 | chr2:179433911;179433910;179433909 |
| N2A | 23082 | 69469;69470;69471 | chr2:178569184;178569183;178569182 | chr2:179433911;179433910;179433909 |
| N2B | 16585 | 49978;49979;49980 | chr2:178569184;178569183;178569182 | chr2:179433911;179433910;179433909 |
| Novex-1 | 16710 | 50353;50354;50355 | chr2:178569184;178569183;178569182 | chr2:179433911;179433910;179433909 |
| Novex-2 | 16777 | 50554;50555;50556 | chr2:178569184;178569183;178569182 | chr2:179433911;179433910;179433909 |
| 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/D | rs886042780  |
-0.833 | 0.983 | N | 0.684 | 0.423 | 0.470155540985 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| A/D | rs886042780 |
-0.833 | 0.983 | N | 0.684 | 0.423 | 0.470155540985 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/D | rs886042780 |
-0.833 | 0.983 | N | 0.684 | 0.423 | 0.470155540985 | gnomAD-4.0.0 | 8.68662E-06 | None | None | None | None | N | None | 1.33665E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.10263E-05 | 0 | 0 |
| A/S | None | None | 0.944 | N | 0.505 | 0.139 | 0.151104730317 | gnomAD-4.0.0 | 3.19194E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72984E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5669 | likely_pathogenic | 0.5853 | pathogenic | -0.764 | Destabilizing | 0.999 | D | 0.607 | neutral | None | None | None | None | N |
| A/D | 0.8087 | likely_pathogenic | 0.7981 | pathogenic | -0.997 | Destabilizing | 0.983 | D | 0.684 | prob.neutral | N | 0.495527371 | None | None | N |
| A/E | 0.6969 | likely_pathogenic | 0.6892 | pathogenic | -1.127 | Destabilizing | 0.987 | D | 0.633 | neutral | None | None | None | None | N |
| A/F | 0.6637 | likely_pathogenic | 0.6794 | pathogenic | -1.019 | Destabilizing | 0.975 | D | 0.695 | prob.neutral | None | None | None | None | N |
| A/G | 0.2827 | likely_benign | 0.2963 | benign | -0.7 | Destabilizing | 0.944 | D | 0.505 | neutral | N | 0.5113049 | None | None | N |
| A/H | 0.8107 | likely_pathogenic | 0.8075 | pathogenic | -0.772 | Destabilizing | 0.999 | D | 0.695 | prob.neutral | None | None | None | None | N |
| A/I | 0.3258 | likely_benign | 0.3425 | ambiguous | -0.46 | Destabilizing | 0.073 | N | 0.371 | neutral | None | None | None | None | N |
| A/K | 0.8524 | likely_pathogenic | 0.842 | pathogenic | -1.074 | Destabilizing | 0.987 | D | 0.629 | neutral | None | None | None | None | N |
| A/L | 0.2799 | likely_benign | 0.2861 | benign | -0.46 | Destabilizing | 0.653 | D | 0.515 | neutral | None | None | None | None | N |
| A/M | 0.2981 | likely_benign | 0.3083 | benign | -0.396 | Destabilizing | 0.993 | D | 0.652 | neutral | None | None | None | None | N |
| A/N | 0.4721 | ambiguous | 0.4805 | ambiguous | -0.679 | Destabilizing | 0.996 | D | 0.685 | prob.neutral | None | None | None | None | N |
| A/P | 0.2551 | likely_benign | 0.2532 | benign | -0.465 | Destabilizing | 0.025 | N | 0.316 | neutral | N | 0.454931542 | None | None | N |
| A/Q | 0.6586 | likely_pathogenic | 0.6517 | pathogenic | -0.974 | Destabilizing | 0.996 | D | 0.666 | neutral | None | None | None | None | N |
| A/R | 0.8157 | likely_pathogenic | 0.8057 | pathogenic | -0.526 | Destabilizing | 0.996 | D | 0.668 | neutral | None | None | None | None | N |
| A/S | 0.1316 | likely_benign | 0.1363 | benign | -0.863 | Destabilizing | 0.944 | D | 0.505 | neutral | N | 0.437268502 | None | None | N |
| A/T | 0.0878 | likely_benign | 0.0938 | benign | -0.922 | Destabilizing | 0.892 | D | 0.545 | neutral | N | 0.36769656 | None | None | N |
| A/V | 0.1432 | likely_benign | 0.1516 | benign | -0.465 | Destabilizing | 0.587 | D | 0.485 | neutral | N | 0.452736599 | None | None | N |
| A/W | 0.9286 | likely_pathogenic | 0.9328 | pathogenic | -1.208 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | None | None | None | None | N |
| A/Y | 0.7937 | likely_pathogenic | 0.8044 | pathogenic | -0.875 | Destabilizing | 0.987 | D | 0.689 | prob.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.