Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1718 | 5377;5378;5379 | chr2:178776712;178776711;178776710 | chr2:179641439;179641438;179641437 |
| N2AB | 1718 | 5377;5378;5379 | chr2:178776712;178776711;178776710 | chr2:179641439;179641438;179641437 |
| N2A | 1718 | 5377;5378;5379 | chr2:178776712;178776711;178776710 | chr2:179641439;179641438;179641437 |
| N2B | 1672 | 5239;5240;5241 | chr2:178776712;178776711;178776710 | chr2:179641439;179641438;179641437 |
| Novex-1 | 1672 | 5239;5240;5241 | chr2:178776712;178776711;178776710 | chr2:179641439;179641438;179641437 |
| Novex-2 | 1672 | 5239;5240;5241 | chr2:178776712;178776711;178776710 | chr2:179641439;179641438;179641437 |
| Novex-3 | 1718 | 5377;5378;5379 | chr2:178776712;178776711;178776710 | chr2:179641439;179641438;179641437 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs1421424286  |
-0.871 | 1.0 | N | 0.793 | 0.607 | 0.603850281814 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/E | rs1421424286 |
-0.871 | 1.0 | N | 0.793 | 0.607 | 0.603850281814 | gnomAD-4.0.0 | 1.5907E-06 | None | None | None | None | N | None | 0 | 2.28697E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | None | None | 1.0 | N | 0.794 | 0.597 | 0.770447311172 | gnomAD-4.0.0 | 1.59067E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85649E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5456 | ambiguous | 0.46 | ambiguous | -0.021 | Destabilizing | 1.0 | D | 0.654 | neutral | N | 0.496589307 | None | None | N |
| G/C | 0.8726 | likely_pathogenic | 0.8235 | pathogenic | -0.065 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
| G/D | 0.9424 | likely_pathogenic | 0.9185 | pathogenic | -0.615 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/E | 0.9161 | likely_pathogenic | 0.8877 | pathogenic | -0.505 | Destabilizing | 1.0 | D | 0.793 | deleterious | N | 0.452130051 | None | None | N |
| G/F | 0.9474 | likely_pathogenic | 0.9363 | pathogenic | -0.173 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| G/H | 0.962 | likely_pathogenic | 0.9444 | pathogenic | -1.01 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| G/I | 0.8982 | likely_pathogenic | 0.8776 | pathogenic | 0.832 | Stabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| G/K | 0.9759 | likely_pathogenic | 0.9698 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| G/L | 0.8848 | likely_pathogenic | 0.851 | pathogenic | 0.832 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| G/M | 0.9534 | likely_pathogenic | 0.9342 | pathogenic | 0.605 | Stabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| G/N | 0.9369 | likely_pathogenic | 0.9058 | pathogenic | -0.438 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| G/P | 0.9833 | likely_pathogenic | 0.9841 | pathogenic | 0.593 | Stabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| G/Q | 0.9252 | likely_pathogenic | 0.9022 | pathogenic | -0.311 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| G/R | 0.942 | likely_pathogenic | 0.9335 | pathogenic | -0.57 | Destabilizing | 1.0 | D | 0.794 | deleterious | N | 0.520823804 | None | None | N |
| G/S | 0.4641 | ambiguous | 0.3659 | ambiguous | -0.787 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| G/T | 0.8082 | likely_pathogenic | 0.7445 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| G/V | 0.8544 | likely_pathogenic | 0.8111 | pathogenic | 0.593 | Stabilizing | 1.0 | D | 0.755 | deleterious | D | 0.587782055 | None | None | N |
| G/W | 0.9536 | likely_pathogenic | 0.9412 | pathogenic | -0.909 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | D | 0.652549724 | None | None | N |
| G/Y | 0.956 | likely_pathogenic | 0.9416 | pathogenic | -0.202 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | 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.