Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17242 | 51949;51950;51951 | chr2:178609699;178609698;178609697 | chr2:179474426;179474425;179474424 |
| N2AB | 15601 | 47026;47027;47028 | chr2:178609699;178609698;178609697 | chr2:179474426;179474425;179474424 |
| N2A | 14674 | 44245;44246;44247 | chr2:178609699;178609698;178609697 | chr2:179474426;179474425;179474424 |
| N2B | 8177 | 24754;24755;24756 | chr2:178609699;178609698;178609697 | chr2:179474426;179474425;179474424 |
| Novex-1 | 8302 | 25129;25130;25131 | chr2:178609699;178609698;178609697 | chr2:179474426;179474425;179474424 |
| Novex-2 | 8369 | 25330;25331;25332 | chr2:178609699;178609698;178609697 | chr2:179474426;179474425;179474424 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | rs769598894  |
-2.918 | 1.0 | N | 0.789 | 0.429 | 0.7691730257 | gnomAD-2.1.1 | 4.2E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.6E-05 | None | 0 | 0 | 0 |
| A/D | rs769598894 |
-2.918 | 1.0 | N | 0.789 | 0.429 | 0.7691730257 | gnomAD-4.0.0 | 3.27304E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.98303E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7757 | likely_pathogenic | 0.7579 | pathogenic | -1.712 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| A/D | 0.9977 | likely_pathogenic | 0.997 | pathogenic | -2.838 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.495162984 | None | None | N |
| A/E | 0.995 | likely_pathogenic | 0.994 | pathogenic | -2.738 | Highly Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| A/F | 0.9767 | likely_pathogenic | 0.9699 | pathogenic | -1.036 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| A/G | 0.6483 | likely_pathogenic | 0.5979 | pathogenic | -1.628 | Destabilizing | 0.999 | D | 0.55 | neutral | N | 0.520393583 | None | None | N |
| A/H | 0.9969 | likely_pathogenic | 0.9961 | pathogenic | -1.696 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| A/I | 0.756 | likely_pathogenic | 0.7557 | pathogenic | -0.403 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| A/K | 0.9986 | likely_pathogenic | 0.9983 | pathogenic | -1.437 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| A/L | 0.7868 | likely_pathogenic | 0.772 | pathogenic | -0.403 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| A/M | 0.8795 | likely_pathogenic | 0.8633 | pathogenic | -0.701 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| A/N | 0.9878 | likely_pathogenic | 0.9859 | pathogenic | -1.659 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| A/P | 0.9622 | likely_pathogenic | 0.9477 | pathogenic | -0.657 | Destabilizing | 1.0 | D | 0.77 | deleterious | N | 0.48570601 | None | None | N |
| A/Q | 0.9924 | likely_pathogenic | 0.991 | pathogenic | -1.687 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| A/R | 0.9938 | likely_pathogenic | 0.9925 | pathogenic | -1.233 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| A/S | 0.525 | ambiguous | 0.5148 | ambiguous | -1.973 | Destabilizing | 0.999 | D | 0.599 | neutral | N | 0.508872693 | None | None | N |
| A/T | 0.7247 | likely_pathogenic | 0.7253 | pathogenic | -1.779 | Destabilizing | 1.0 | D | 0.744 | deleterious | N | 0.484438562 | None | None | N |
| A/V | 0.5103 | ambiguous | 0.4936 | ambiguous | -0.657 | Destabilizing | 0.999 | D | 0.669 | prob.neutral | N | 0.462927455 | None | None | N |
| A/W | 0.9981 | likely_pathogenic | 0.9975 | pathogenic | -1.584 | Destabilizing | 1.0 | D | 0.729 | deleterious | None | None | None | None | N |
| A/Y | 0.992 | likely_pathogenic | 0.9893 | pathogenic | -1.142 | Destabilizing | 1.0 | D | 0.804 | 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.