Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2126 | 6601;6602;6603 | chr2:178775488;178775487;178775486 | chr2:179640215;179640214;179640213 |
| N2AB | 2126 | 6601;6602;6603 | chr2:178775488;178775487;178775486 | chr2:179640215;179640214;179640213 |
| N2A | 2126 | 6601;6602;6603 | chr2:178775488;178775487;178775486 | chr2:179640215;179640214;179640213 |
| N2B | 2080 | 6463;6464;6465 | chr2:178775488;178775487;178775486 | chr2:179640215;179640214;179640213 |
| Novex-1 | 2080 | 6463;6464;6465 | chr2:178775488;178775487;178775486 | chr2:179640215;179640214;179640213 |
| Novex-2 | 2080 | 6463;6464;6465 | chr2:178775488;178775487;178775486 | chr2:179640215;179640214;179640213 |
| Novex-3 | 2126 | 6601;6602;6603 | chr2:178775488;178775487;178775486 | chr2:179640215;179640214;179640213 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/L | rs184312157  |
-2.292 | 1.0 | N | 0.768 | 0.503 | None | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| W/L | rs184312157 |
-2.292 | 1.0 | N | 0.768 | 0.503 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/L | rs184312157 |
-2.292 | 1.0 | N | 0.768 | 0.503 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| W/L | rs184312157 |
-2.292 | 1.0 | N | 0.768 | 0.503 | None | gnomAD-4.0.0 | 6.56763E-06 | None | None | None | None | N | None | 0 | 6.5368E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/R | rs1236527703 |
-1.852 | 1.0 | N | 0.856 | 0.702 | 0.737409702068 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.81E-06 | 0 |
| W/R | rs1236527703 |
-1.852 | 1.0 | N | 0.856 | 0.702 | 0.737409702068 | gnomAD-4.0.0 | 1.59074E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85657E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.8481 | likely_pathogenic | 0.8802 | pathogenic | -2.925 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| W/C | 0.9173 | likely_pathogenic | 0.9394 | pathogenic | -1.545 | Destabilizing | 1.0 | D | 0.843 | deleterious | N | 0.508993292 | None | None | N |
| W/D | 0.9871 | likely_pathogenic | 0.989 | pathogenic | -3.515 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| W/E | 0.9856 | likely_pathogenic | 0.9879 | pathogenic | -3.407 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| W/F | 0.4887 | ambiguous | 0.5339 | ambiguous | -1.87 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| W/G | 0.7642 | likely_pathogenic | 0.8069 | pathogenic | -3.144 | Highly Destabilizing | 1.0 | D | 0.768 | deleterious | N | 0.50277546 | None | None | N |
| W/H | 0.9152 | likely_pathogenic | 0.9228 | pathogenic | -2.146 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| W/I | 0.9039 | likely_pathogenic | 0.9297 | pathogenic | -2.079 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| W/K | 0.9905 | likely_pathogenic | 0.9913 | pathogenic | -2.478 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| W/L | 0.798 | likely_pathogenic | 0.8375 | pathogenic | -2.079 | Highly Destabilizing | 1.0 | D | 0.768 | deleterious | N | 0.421774245 | None | None | N |
| W/M | 0.9055 | likely_pathogenic | 0.9247 | pathogenic | -1.502 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| W/N | 0.9656 | likely_pathogenic | 0.9698 | pathogenic | -3.21 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| W/P | 0.9914 | likely_pathogenic | 0.9935 | pathogenic | -2.389 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| W/Q | 0.9713 | likely_pathogenic | 0.9769 | pathogenic | -3.056 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| W/R | 0.9758 | likely_pathogenic | 0.9804 | pathogenic | -2.254 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | N | 0.500593532 | None | None | N |
| W/S | 0.6954 | likely_pathogenic | 0.7401 | pathogenic | -3.279 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | N | 0.436882097 | None | None | N |
| W/T | 0.8254 | likely_pathogenic | 0.8564 | pathogenic | -3.102 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| W/V | 0.8607 | likely_pathogenic | 0.8959 | pathogenic | -2.389 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| W/Y | 0.6572 | likely_pathogenic | 0.6724 | pathogenic | -1.709 | Destabilizing | 1.0 | D | 0.692 | 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.