Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2988 | 9187;9188;9189 | chr2:178768874;178768873;178768872 | chr2:179633601;179633600;179633599 |
| N2AB | 2988 | 9187;9188;9189 | chr2:178768874;178768873;178768872 | chr2:179633601;179633600;179633599 |
| N2A | 2988 | 9187;9188;9189 | chr2:178768874;178768873;178768872 | chr2:179633601;179633600;179633599 |
| N2B | 2942 | 9049;9050;9051 | chr2:178768874;178768873;178768872 | chr2:179633601;179633600;179633599 |
| Novex-1 | 2942 | 9049;9050;9051 | chr2:178768874;178768873;178768872 | chr2:179633601;179633600;179633599 |
| Novex-2 | 2942 | 9049;9050;9051 | chr2:178768874;178768873;178768872 | chr2:179633601;179633600;179633599 |
| Novex-3 | 2988 | 9187;9188;9189 | chr2:178768874;178768873;178768872 | chr2:179633601;179633600;179633599 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/S | None | None | 1.0 | D | 0.904 | 0.897 | 0.893135644064 | gnomAD-4.0.0 | 2.05234E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79862E-06 | 0 | 1.6559E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9958 | likely_pathogenic | 0.9966 | pathogenic | -1.943 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| F/C | 0.9847 | likely_pathogenic | 0.9895 | pathogenic | -1.106 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.725680668 | None | None | N |
| F/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.991 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| F/E | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.737 | Highly Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| F/G | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -2.403 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| F/H | 0.9979 | likely_pathogenic | 0.9986 | pathogenic | -1.95 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| F/I | 0.9452 | likely_pathogenic | 0.9605 | pathogenic | -0.433 | Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.670122632 | None | None | N |
| F/K | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.821 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| F/L | 0.9865 | likely_pathogenic | 0.9884 | pathogenic | -0.433 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | N | 0.504658366 | None | None | N |
| F/M | 0.9394 | likely_pathogenic | 0.9527 | pathogenic | -0.352 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| F/N | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -2.574 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| F/P | 1.0 | likely_pathogenic | 1.0 | pathogenic | -0.951 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| F/Q | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -2.224 | Highly Destabilizing | 1.0 | D | 0.918 | deleterious | None | None | None | None | N |
| F/R | 0.9988 | likely_pathogenic | 0.9991 | pathogenic | -2.044 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| F/S | 0.9981 | likely_pathogenic | 0.9987 | pathogenic | -2.902 | Highly Destabilizing | 1.0 | D | 0.904 | deleterious | D | 0.725680668 | None | None | N |
| F/T | 0.9977 | likely_pathogenic | 0.9985 | pathogenic | -2.513 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| F/V | 0.9448 | likely_pathogenic | 0.9583 | pathogenic | -0.951 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.648475588 | None | None | N |
| F/W | 0.9672 | likely_pathogenic | 0.9753 | pathogenic | -0.109 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| F/Y | 0.8768 | likely_pathogenic | 0.9019 | pathogenic | -0.474 | Destabilizing | 0.999 | D | 0.641 | neutral | D | 0.649313212 | 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.