Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6948 | 21067;21068;21069 | chr2:178724533;178724532;178724531 | chr2:179589260;179589259;179589258 |
| N2AB | 6631 | 20116;20117;20118 | chr2:178724533;178724532;178724531 | chr2:179589260;179589259;179589258 |
| N2A | 5704 | 17335;17336;17337 | chr2:178724533;178724532;178724531 | chr2:179589260;179589259;179589258 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | None | None | 1.0 | N | 0.85 | 0.389 | 0.223146558224 | gnomAD-4.0.0 | 6.99022E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.90534E-05 | 0 | 0 | 0 | 0 |
| A/S | None | None | 0.997 | N | 0.6 | 0.28 | 0.218112801441 | gnomAD-4.0.0 | 6.99023E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.55689E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs147210608  |
-1.098 | 0.977 | N | 0.441 | 0.288 | None | gnomAD-2.1.1 | 4.57E-05 | None | None | None | None | N | None | 0 | 1.23854E-04 | None | 0 | 0 | None | 1.13054E-04 | None | 4.17E-05 | 3.29E-05 | 0 |
| A/T | rs147210608 |
-1.098 | 0.977 | N | 0.441 | 0.288 | None | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 2.42E-05 | 6.55E-05 | 0 | 0 | 0 | None | 9.44E-05 | 0 | 4.41E-05 | 0 | 0 |
| A/T | rs147210608 |
-1.098 | 0.977 | N | 0.441 | 0.288 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| A/T | rs147210608 |
-1.098 | 0.977 | N | 0.441 | 0.288 | None | gnomAD-4.0.0 | 2.46414E-05 | None | None | None | None | N | None | 1.35377E-05 | 7.06739E-05 | None | 0 | 0 | None | 6.34115E-05 | 0 | 2.15163E-05 | 3.44598E-05 | 3.28407E-05 |
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 | 0.9219 | likely_pathogenic | 0.9171 | pathogenic | -1.135 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| A/D | 0.993 | likely_pathogenic | 0.9914 | pathogenic | -1.288 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| A/E | 0.9889 | likely_pathogenic | 0.9851 | pathogenic | -1.333 | Destabilizing | 0.999 | D | 0.825 | deleterious | N | 0.506538507 | None | None | N |
| A/F | 0.99 | likely_pathogenic | 0.9896 | pathogenic | -1.102 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| A/G | 0.546 | ambiguous | 0.5696 | pathogenic | -1.17 | Destabilizing | 0.998 | D | 0.637 | neutral | N | 0.506538507 | None | None | N |
| A/H | 0.9969 | likely_pathogenic | 0.9963 | pathogenic | -1.218 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| A/I | 0.931 | likely_pathogenic | 0.9294 | pathogenic | -0.474 | Destabilizing | 0.999 | D | 0.853 | deleterious | None | None | None | None | N |
| A/K | 0.9983 | likely_pathogenic | 0.9977 | pathogenic | -1.148 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| A/L | 0.8835 | likely_pathogenic | 0.8889 | pathogenic | -0.474 | Destabilizing | 0.997 | D | 0.702 | prob.neutral | None | None | None | None | N |
| A/M | 0.9448 | likely_pathogenic | 0.949 | pathogenic | -0.466 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| A/N | 0.9891 | likely_pathogenic | 0.9876 | pathogenic | -0.927 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| A/P | 0.6101 | likely_pathogenic | 0.4266 | ambiguous | -0.59 | Destabilizing | 1.0 | D | 0.85 | deleterious | N | 0.345104049 | None | None | N |
| A/Q | 0.9903 | likely_pathogenic | 0.9887 | pathogenic | -1.139 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| A/R | 0.9935 | likely_pathogenic | 0.9921 | pathogenic | -0.775 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/S | 0.4048 | ambiguous | 0.4244 | ambiguous | -1.287 | Destabilizing | 0.997 | D | 0.6 | neutral | N | 0.47725575 | None | None | N |
| A/T | 0.7171 | likely_pathogenic | 0.7149 | pathogenic | -1.242 | Destabilizing | 0.977 | D | 0.441 | neutral | N | 0.507578657 | None | None | N |
| A/V | 0.6994 | likely_pathogenic | 0.707 | pathogenic | -0.59 | Destabilizing | 0.996 | D | 0.649 | neutral | N | 0.508098732 | None | None | N |
| A/W | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -1.368 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| A/Y | 0.9961 | likely_pathogenic | 0.9954 | pathogenic | -0.983 | Destabilizing | 1.0 | D | 0.835 | 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.