Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2862 | 8809;8810;8811 | chr2:178770117;178770116;178770115 | chr2:179634844;179634843;179634842 |
| N2AB | 2862 | 8809;8810;8811 | chr2:178770117;178770116;178770115 | chr2:179634844;179634843;179634842 |
| N2A | 2862 | 8809;8810;8811 | chr2:178770117;178770116;178770115 | chr2:179634844;179634843;179634842 |
| N2B | 2816 | 8671;8672;8673 | chr2:178770117;178770116;178770115 | chr2:179634844;179634843;179634842 |
| Novex-1 | 2816 | 8671;8672;8673 | chr2:178770117;178770116;178770115 | chr2:179634844;179634843;179634842 |
| Novex-2 | 2816 | 8671;8672;8673 | chr2:178770117;178770116;178770115 | chr2:179634844;179634843;179634842 |
| Novex-3 | 2862 | 8809;8810;8811 | chr2:178770117;178770116;178770115 | chr2:179634844;179634843;179634842 |
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/R | None | None | 1.0 | D | 0.812 | 0.767 | 0.851244813807 | gnomAD-4.0.0 | 1.59048E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 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 | 0.4239 | ambiguous | 0.5433 | ambiguous | -0.429 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | D | 0.584980556 | None | None | N |
| G/C | 0.8665 | likely_pathogenic | 0.8985 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| G/D | 0.9047 | likely_pathogenic | 0.899 | pathogenic | -1.473 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| G/E | 0.9468 | likely_pathogenic | 0.9401 | pathogenic | -1.354 | Destabilizing | 1.0 | D | 0.812 | deleterious | D | 0.759487528 | None | None | N |
| G/F | 0.9893 | likely_pathogenic | 0.9913 | pathogenic | -0.534 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| G/H | 0.9854 | likely_pathogenic | 0.9877 | pathogenic | -1.603 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| G/I | 0.9858 | likely_pathogenic | 0.9878 | pathogenic | 0.485 | Stabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| G/K | 0.9847 | likely_pathogenic | 0.983 | pathogenic | -0.842 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| G/L | 0.9738 | likely_pathogenic | 0.9793 | pathogenic | 0.485 | Stabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| G/M | 0.9771 | likely_pathogenic | 0.9814 | pathogenic | 0.448 | Stabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| G/N | 0.9563 | likely_pathogenic | 0.9571 | pathogenic | -0.834 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| G/P | 0.9988 | likely_pathogenic | 0.999 | pathogenic | 0.224 | Stabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| G/Q | 0.9526 | likely_pathogenic | 0.9533 | pathogenic | -0.741 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/R | 0.9506 | likely_pathogenic | 0.9491 | pathogenic | -0.934 | Destabilizing | 1.0 | D | 0.812 | deleterious | D | 0.759425796 | None | None | N |
| G/S | 0.4841 | ambiguous | 0.5434 | ambiguous | -1.129 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| G/T | 0.9118 | likely_pathogenic | 0.9137 | pathogenic | -0.908 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/V | 0.9553 | likely_pathogenic | 0.9622 | pathogenic | 0.224 | Stabilizing | 1.0 | D | 0.803 | deleterious | D | 0.72235306 | None | None | N |
| G/W | 0.9848 | likely_pathogenic | 0.9876 | pathogenic | -1.342 | Destabilizing | 1.0 | D | 0.759 | deleterious | D | 0.758887958 | None | None | N |
| G/Y | 0.9882 | likely_pathogenic | 0.9904 | pathogenic | -0.674 | Destabilizing | 1.0 | D | 0.778 | 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.