Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 63 | 412;413;414 | chr2:178802246;178802245;178802244 | chr2:179666973;179666972;179666971 |
| N2AB | 63 | 412;413;414 | chr2:178802246;178802245;178802244 | chr2:179666973;179666972;179666971 |
| N2A | 63 | 412;413;414 | chr2:178802246;178802245;178802244 | chr2:179666973;179666972;179666971 |
| N2B | 63 | 412;413;414 | chr2:178802246;178802245;178802244 | chr2:179666973;179666972;179666971 |
| Novex-1 | 63 | 412;413;414 | chr2:178802246;178802245;178802244 | chr2:179666973;179666972;179666971 |
| Novex-2 | 63 | 412;413;414 | chr2:178802246;178802245;178802244 | chr2:179666973;179666972;179666971 |
| Novex-3 | 63 | 412;413;414 | chr2:178802246;178802245;178802244 | chr2:179666973;179666972;179666971 |
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 | rs764892312  |
-1.307 | 1.0 | N | 0.717 | 0.393 | None | gnomAD-2.1.1 | 3.54E-05 | None | None | None | -0.843(TCAP) | N | None | 0 | 0 | None | 0 | 3.51441E-04 | None | 0 | None | 0 | 2.32E-05 | 0 |
| A/T | rs764892312 |
-1.307 | 1.0 | N | 0.717 | 0.393 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | -0.843(TCAP) | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | rs764892312 |
-1.307 | 1.0 | N | 0.717 | 0.393 | None | gnomAD-4.0.0 | 2.29267E-05 | None | None | None | -0.843(TCAP) | N | None | 0 | 5.00133E-05 | None | 0 | 2.00606E-04 | None | 0 | 0 | 1.94915E-05 | 1.09803E-05 | 1.60046E-05 |
| A/V | rs761823259 |
0.548 | 1.0 | N | 0.615 | 0.399 | 0.297718772494 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | -0.787(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.62E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8997 | likely_pathogenic | 0.8829 | pathogenic | -0.655 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | -1.291(TCAP) | N |
| A/D | 0.9929 | likely_pathogenic | 0.9925 | pathogenic | -2.333 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | N | 0.451935169 | None | -1.294(TCAP) | N |
| A/E | 0.9802 | likely_pathogenic | 0.9803 | pathogenic | -2.044 | Highly Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | -1.476(TCAP) | N |
| A/F | 0.9386 | likely_pathogenic | 0.9296 | pathogenic | -0.408 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | -0.709(TCAP) | N |
| A/G | 0.3417 | ambiguous | 0.3456 | ambiguous | -1.343 | Destabilizing | 0.999 | D | 0.581 | neutral | N | 0.410505692 | None | -0.379(TCAP) | N |
| A/H | 0.9913 | likely_pathogenic | 0.9907 | pathogenic | -2.056 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | -0.115(TCAP) | N |
| A/I | 0.8593 | likely_pathogenic | 0.8536 | pathogenic | 0.752 | Stabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | -0.936(TCAP) | N |
| A/K | 0.9956 | likely_pathogenic | 0.9956 | pathogenic | -0.71 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | -1.459(TCAP) | N |
| A/L | 0.7273 | likely_pathogenic | 0.7249 | pathogenic | 0.752 | Stabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | -0.936(TCAP) | N |
| A/M | 0.8479 | likely_pathogenic | 0.8457 | pathogenic | 0.357 | Stabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | -1.058(TCAP) | N |
| A/N | 0.983 | likely_pathogenic | 0.982 | pathogenic | -1.282 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | -1.005(TCAP) | N |
| A/P | 0.9893 | likely_pathogenic | 0.987 | pathogenic | 0.279 | Stabilizing | 1.0 | D | 0.837 | deleterious | N | 0.44347413 | None | -0.787(TCAP) | N |
| A/Q | 0.9701 | likely_pathogenic | 0.9704 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | -1.149(TCAP) | N |
| A/R | 0.9847 | likely_pathogenic | 0.9849 | pathogenic | -1.171 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | -1.383(TCAP) | N |
| A/S | 0.4144 | ambiguous | 0.41 | ambiguous | -1.623 | Destabilizing | 1.0 | D | 0.573 | neutral | N | 0.415515678 | None | -0.641(TCAP) | N |
| A/T | 0.5879 | likely_pathogenic | 0.5828 | pathogenic | -1.188 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | N | 0.428593587 | None | -0.843(TCAP) | N |
| A/V | 0.543 | ambiguous | 0.5451 | ambiguous | 0.279 | Stabilizing | 1.0 | D | 0.615 | neutral | N | 0.440566652 | None | -0.787(TCAP) | N |
| A/W | 0.9951 | likely_pathogenic | 0.9946 | pathogenic | -1.343 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | -0.978(TCAP) | N |
| A/Y | 0.9801 | likely_pathogenic | 0.9779 | pathogenic | -0.692 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | -0.704(TCAP) | 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.