Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35027 | 105304;105305;105306 | chr2:178531536;178531535;178531534 | chr2:179396263;179396262;179396261 |
| N2AB | 33386 | 100381;100382;100383 | chr2:178531536;178531535;178531534 | chr2:179396263;179396262;179396261 |
| N2A | 32459 | 97600;97601;97602 | chr2:178531536;178531535;178531534 | chr2:179396263;179396262;179396261 |
| N2B | 25962 | 78109;78110;78111 | chr2:178531536;178531535;178531534 | chr2:179396263;179396262;179396261 |
| Novex-1 | 26087 | 78484;78485;78486 | chr2:178531536;178531535;178531534 | chr2:179396263;179396262;179396261 |
| Novex-2 | 26154 | 78685;78686;78687 | chr2:178531536;178531535;178531534 | chr2:179396263;179396262;179396261 |
| 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 | rs767662721  |
-1.284 | 1.0 | N | 0.755 | 0.581 | 0.546044812627 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/T | rs767662721 |
-1.284 | 1.0 | N | 0.755 | 0.581 | 0.546044812627 | gnomAD-4.0.0 | 6.84159E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-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 | 0.9031 | likely_pathogenic | 0.9184 | pathogenic | -0.966 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| A/D | 0.9966 | likely_pathogenic | 0.9978 | pathogenic | -1.695 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| A/E | 0.9961 | likely_pathogenic | 0.9972 | pathogenic | -1.601 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.524328192 | None | None | N |
| A/F | 0.9775 | likely_pathogenic | 0.9821 | pathogenic | -0.827 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| A/G | 0.53 | ambiguous | 0.5951 | pathogenic | -1.353 | Destabilizing | 1.0 | D | 0.63 | neutral | N | 0.494867631 | None | None | N |
| A/H | 0.9966 | likely_pathogenic | 0.9971 | pathogenic | -1.744 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| A/I | 0.9786 | likely_pathogenic | 0.9839 | pathogenic | 0.045 | Stabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| A/K | 0.9987 | likely_pathogenic | 0.999 | pathogenic | -1.107 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| A/L | 0.9185 | likely_pathogenic | 0.9314 | pathogenic | 0.045 | Stabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| A/M | 0.9645 | likely_pathogenic | 0.9711 | pathogenic | -0.013 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| A/N | 0.9939 | likely_pathogenic | 0.9956 | pathogenic | -1.096 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| A/P | 0.9961 | likely_pathogenic | 0.9972 | pathogenic | -0.244 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.535937987 | None | None | N |
| A/Q | 0.9886 | likely_pathogenic | 0.9907 | pathogenic | -1.064 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| A/R | 0.9915 | likely_pathogenic | 0.9928 | pathogenic | -1.046 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| A/S | 0.5374 | ambiguous | 0.5859 | pathogenic | -1.522 | Destabilizing | 1.0 | D | 0.633 | neutral | D | 0.533582406 | None | None | N |
| A/T | 0.854 | likely_pathogenic | 0.8877 | pathogenic | -1.311 | Destabilizing | 1.0 | D | 0.755 | deleterious | N | 0.489561259 | None | None | N |
| A/V | 0.8937 | likely_pathogenic | 0.9112 | pathogenic | -0.244 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | N | 0.489544351 | None | None | N |
| A/W | 0.999 | likely_pathogenic | 0.9992 | pathogenic | -1.441 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| A/Y | 0.995 | likely_pathogenic | 0.996 | pathogenic | -0.918 | Destabilizing | 1.0 | D | 0.877 | 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.