Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23791 | 71596;71597;71598 | chr2:178574761;178574760;178574759 | chr2:179439488;179439487;179439486 |
| N2AB | 22150 | 66673;66674;66675 | chr2:178574761;178574760;178574759 | chr2:179439488;179439487;179439486 |
| N2A | 21223 | 63892;63893;63894 | chr2:178574761;178574760;178574759 | chr2:179439488;179439487;179439486 |
| N2B | 14726 | 44401;44402;44403 | chr2:178574761;178574760;178574759 | chr2:179439488;179439487;179439486 |
| Novex-1 | 14851 | 44776;44777;44778 | chr2:178574761;178574760;178574759 | chr2:179439488;179439487;179439486 |
| Novex-2 | 14918 | 44977;44978;44979 | chr2:178574761;178574760;178574759 | chr2:179439488;179439487;179439486 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/I | rs765419522  |
None | 0.999 | D | 0.828 | 0.774 | 0.80943609516 | gnomAD-4.0.0 | 6.00161E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.56251E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.982 | likely_pathogenic | 0.9818 | pathogenic | -2.608 | Highly Destabilizing | 0.999 | D | 0.837 | deleterious | None | None | None | None | N |
| L/C | 0.9657 | likely_pathogenic | 0.9643 | pathogenic | -2.204 | Highly Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| L/D | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.424 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| L/E | 0.9984 | likely_pathogenic | 0.9984 | pathogenic | -2.286 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| L/F | 0.8699 | likely_pathogenic | 0.8881 | pathogenic | -1.83 | Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.642688435 | None | None | N |
| L/G | 0.9954 | likely_pathogenic | 0.9955 | pathogenic | -3.081 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| L/H | 0.9944 | likely_pathogenic | 0.995 | pathogenic | -2.273 | Highly Destabilizing | 1.0 | D | 0.818 | deleterious | D | 0.659515013 | None | None | N |
| L/I | 0.5648 | likely_pathogenic | 0.5799 | pathogenic | -1.284 | Destabilizing | 0.999 | D | 0.828 | deleterious | D | 0.620320266 | None | None | N |
| L/K | 0.9934 | likely_pathogenic | 0.9941 | pathogenic | -1.914 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| L/M | 0.5544 | ambiguous | 0.5529 | ambiguous | -1.243 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| L/N | 0.9971 | likely_pathogenic | 0.9969 | pathogenic | -2.057 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| L/P | 0.9957 | likely_pathogenic | 0.9955 | pathogenic | -1.702 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.643495652 | None | None | N |
| L/Q | 0.9915 | likely_pathogenic | 0.9912 | pathogenic | -2.092 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| L/R | 0.9888 | likely_pathogenic | 0.9899 | pathogenic | -1.403 | Destabilizing | 1.0 | D | 0.852 | deleterious | D | 0.643495652 | None | None | N |
| L/S | 0.9979 | likely_pathogenic | 0.9979 | pathogenic | -2.848 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| L/T | 0.9887 | likely_pathogenic | 0.9893 | pathogenic | -2.565 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| L/V | 0.6508 | likely_pathogenic | 0.6598 | pathogenic | -1.702 | Destabilizing | 0.999 | D | 0.837 | deleterious | D | 0.581195163 | None | None | N |
| L/W | 0.9928 | likely_pathogenic | 0.9935 | pathogenic | -1.999 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| L/Y | 0.9909 | likely_pathogenic | 0.9921 | pathogenic | -1.77 | Destabilizing | 1.0 | D | 0.829 | 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.