Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5891 | 17896;17897;17898 | chr2:178730994;178730993;178730992 | chr2:179595721;179595720;179595719 |
| N2AB | 5574 | 16945;16946;16947 | chr2:178730994;178730993;178730992 | chr2:179595721;179595720;179595719 |
| N2A | 4647 | 14164;14165;14166 | chr2:178730994;178730993;178730992 | chr2:179595721;179595720;179595719 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs1419194917  |
-1.114 | 1.0 | D | 0.827 | 0.789 | 0.824947281276 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.66113E-04 |
| G/E | rs1419194917 |
-1.114 | 1.0 | D | 0.827 | 0.789 | 0.824947281276 | gnomAD-4.0.0 | 1.59195E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.0248E-05 |
| G/R | None | None | 1.0 | D | 0.823 | 0.804 | 0.865311790988 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| G/V | rs1419194917 |
-0.081 | 1.0 | D | 0.778 | 0.785 | 0.916201921179 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| G/V | rs1419194917 |
-0.081 | 1.0 | D | 0.778 | 0.785 | 0.916201921179 | gnomAD-4.0.0 | 1.59195E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85936E-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 | 0.272 | likely_benign | 0.3943 | ambiguous | -0.764 | Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.558914535 | None | None | N |
| G/C | 0.7116 | likely_pathogenic | 0.838 | pathogenic | -0.991 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| G/D | 0.8054 | likely_pathogenic | 0.8898 | pathogenic | -1.18 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| G/E | 0.8824 | likely_pathogenic | 0.9393 | pathogenic | -1.216 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.624656416 | None | None | N |
| G/F | 0.9757 | likely_pathogenic | 0.9856 | pathogenic | -1.071 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| G/H | 0.9514 | likely_pathogenic | 0.9739 | pathogenic | -1.386 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| G/I | 0.955 | likely_pathogenic | 0.9803 | pathogenic | -0.304 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| G/K | 0.9338 | likely_pathogenic | 0.9653 | pathogenic | -1.174 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/L | 0.9312 | likely_pathogenic | 0.9646 | pathogenic | -0.304 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| G/M | 0.942 | likely_pathogenic | 0.9707 | pathogenic | -0.284 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| G/N | 0.8753 | likely_pathogenic | 0.9343 | pathogenic | -0.907 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| G/P | 0.9967 | likely_pathogenic | 0.9979 | pathogenic | -0.415 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/Q | 0.8852 | likely_pathogenic | 0.9292 | pathogenic | -1.063 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/R | 0.8391 | likely_pathogenic | 0.8992 | pathogenic | -0.908 | Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.624454611 | None | None | N |
| G/S | 0.2979 | likely_benign | 0.4334 | ambiguous | -1.215 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| G/T | 0.7548 | likely_pathogenic | 0.8734 | pathogenic | -1.162 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/V | 0.8769 | likely_pathogenic | 0.9428 | pathogenic | -0.415 | Destabilizing | 1.0 | D | 0.778 | deleterious | D | 0.60840489 | None | None | N |
| G/W | 0.9571 | likely_pathogenic | 0.975 | pathogenic | -1.452 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| G/Y | 0.9695 | likely_pathogenic | 0.9838 | pathogenic | -1.012 | Destabilizing | 1.0 | D | 0.752 | 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.