Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21253 | 63982;63983;63984 | chr2:178587552;178587551;178587550 | chr2:179452279;179452278;179452277 |
| N2AB | 19612 | 59059;59060;59061 | chr2:178587552;178587551;178587550 | chr2:179452279;179452278;179452277 |
| N2A | 18685 | 56278;56279;56280 | chr2:178587552;178587551;178587550 | chr2:179452279;179452278;179452277 |
| N2B | 12188 | 36787;36788;36789 | chr2:178587552;178587551;178587550 | chr2:179452279;179452278;179452277 |
| Novex-1 | 12313 | 37162;37163;37164 | chr2:178587552;178587551;178587550 | chr2:179452279;179452278;179452277 |
| Novex-2 | 12380 | 37363;37364;37365 | chr2:178587552;178587551;178587550 | chr2:179452279;179452278;179452277 |
| 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/V | rs770861395  |
-0.023 | 1.0 | D | 0.872 | 0.739 | 0.759615262451 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 1.14863E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/V | rs770861395 |
-0.023 | 1.0 | D | 0.872 | 0.739 | 0.759615262451 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs770861395 |
-0.023 | 1.0 | D | 0.872 | 0.739 | 0.759615262451 | gnomAD-4.0.0 | 6.58033E-06 | None | None | None | None | I | None | 2.41523E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.4996 | ambiguous | 0.5422 | ambiguous | -0.289 | Destabilizing | 1.0 | D | 0.775 | deleterious | D | 0.626374444 | None | None | I |
| G/C | 0.7399 | likely_pathogenic | 0.773 | pathogenic | -0.848 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/D | 0.8715 | likely_pathogenic | 0.8688 | pathogenic | -0.925 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | I |
| G/E | 0.8582 | likely_pathogenic | 0.8568 | pathogenic | -1.1 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.569707869 | None | None | I |
| G/F | 0.9657 | likely_pathogenic | 0.9719 | pathogenic | -1.106 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | I |
| G/H | 0.93 | likely_pathogenic | 0.9366 | pathogenic | -0.558 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | I |
| G/I | 0.9499 | likely_pathogenic | 0.958 | pathogenic | -0.497 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | I |
| G/K | 0.8931 | likely_pathogenic | 0.8996 | pathogenic | -0.926 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | I |
| G/L | 0.926 | likely_pathogenic | 0.9413 | pathogenic | -0.497 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/M | 0.9252 | likely_pathogenic | 0.9427 | pathogenic | -0.51 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| G/N | 0.8703 | likely_pathogenic | 0.8838 | pathogenic | -0.524 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | I |
| G/P | 0.9972 | likely_pathogenic | 0.9979 | pathogenic | -0.397 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | I |
| G/Q | 0.8387 | likely_pathogenic | 0.8514 | pathogenic | -0.851 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | I |
| G/R | 0.8121 | likely_pathogenic | 0.8141 | pathogenic | -0.417 | Destabilizing | 1.0 | D | 0.913 | deleterious | D | 0.636094999 | None | None | I |
| G/S | 0.428 | ambiguous | 0.4518 | ambiguous | -0.584 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/T | 0.7532 | likely_pathogenic | 0.7829 | pathogenic | -0.706 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | I |
| G/V | 0.8798 | likely_pathogenic | 0.8974 | pathogenic | -0.397 | Destabilizing | 1.0 | D | 0.872 | deleterious | D | 0.636700412 | None | None | I |
| G/W | 0.9401 | likely_pathogenic | 0.9452 | pathogenic | -1.253 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| G/Y | 0.9427 | likely_pathogenic | 0.9525 | pathogenic | -0.922 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | I |
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.