Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7851 | 23776;23777;23778 | chr2:178720091;178720090;178720089 | chr2:179584818;179584817;179584816 |
| N2AB | 7534 | 22825;22826;22827 | chr2:178720091;178720090;178720089 | chr2:179584818;179584817;179584816 |
| N2A | 6607 | 20044;20045;20046 | chr2:178720091;178720090;178720089 | chr2:179584818;179584817;179584816 |
| 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/T | rs1457271874  |
-1.337 | 0.991 | N | 0.474 | 0.253 | 0.185906805712 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 5.79E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs1457271874 |
-1.337 | 0.991 | N | 0.474 | 0.253 | 0.185906805712 | gnomAD-4.0.0 | 4.77436E-06 | None | None | None | None | N | None | 0 | 6.85965E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs761381617 |
0.567 | 0.949 | N | 0.479 | 0.201 | 0.292787519742 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| A/V | rs761381617 |
0.567 | 0.949 | N | 0.479 | 0.201 | 0.292787519742 | gnomAD-4.0.0 | 2.73699E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69856E-06 | 0 | 1.65678E-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 | 0.7008 | likely_pathogenic | 0.712 | pathogenic | -0.497 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| A/D | 0.9914 | likely_pathogenic | 0.9925 | pathogenic | -1.929 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| A/E | 0.978 | likely_pathogenic | 0.9823 | pathogenic | -1.669 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | N | 0.478266594 | None | None | N |
| A/F | 0.825 | likely_pathogenic | 0.8383 | pathogenic | -0.319 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| A/G | 0.5198 | ambiguous | 0.4948 | ambiguous | -1.164 | Destabilizing | 0.971 | D | 0.645 | neutral | N | 0.494073429 | None | None | N |
| A/H | 0.9816 | likely_pathogenic | 0.9847 | pathogenic | -1.859 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| A/I | 0.4776 | ambiguous | 0.5504 | ambiguous | 0.852 | Stabilizing | 0.999 | D | 0.7 | prob.neutral | None | None | None | None | N |
| A/K | 0.9937 | likely_pathogenic | 0.9945 | pathogenic | -0.563 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| A/L | 0.4702 | ambiguous | 0.521 | ambiguous | 0.852 | Stabilizing | 0.998 | D | 0.689 | prob.neutral | None | None | None | None | N |
| A/M | 0.6104 | likely_pathogenic | 0.654 | pathogenic | 0.511 | Stabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| A/N | 0.9682 | likely_pathogenic | 0.9728 | pathogenic | -1.028 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| A/P | 0.9711 | likely_pathogenic | 0.9765 | pathogenic | 0.404 | Stabilizing | 1.0 | D | 0.747 | deleterious | N | 0.496370849 | None | None | N |
| A/Q | 0.9623 | likely_pathogenic | 0.9689 | pathogenic | -0.693 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| A/R | 0.9814 | likely_pathogenic | 0.984 | pathogenic | -0.983 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| A/S | 0.3318 | likely_benign | 0.351 | ambiguous | -1.416 | Destabilizing | 0.995 | D | 0.634 | neutral | N | 0.504287635 | None | None | N |
| A/T | 0.2462 | likely_benign | 0.264 | benign | -1.008 | Destabilizing | 0.991 | D | 0.474 | neutral | N | 0.469237239 | None | None | N |
| A/V | 0.2025 | likely_benign | 0.2422 | benign | 0.404 | Stabilizing | 0.949 | D | 0.479 | neutral | N | 0.454589251 | None | None | N |
| A/W | 0.9899 | likely_pathogenic | 0.9912 | pathogenic | -1.227 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| A/Y | 0.9572 | likely_pathogenic | 0.9616 | pathogenic | -0.542 | Destabilizing | 1.0 | D | 0.761 | 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.