Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23831 | 71716;71717;71718 | chr2:178574641;178574640;178574639 | chr2:179439368;179439367;179439366 |
| N2AB | 22190 | 66793;66794;66795 | chr2:178574641;178574640;178574639 | chr2:179439368;179439367;179439366 |
| N2A | 21263 | 64012;64013;64014 | chr2:178574641;178574640;178574639 | chr2:179439368;179439367;179439366 |
| N2B | 14766 | 44521;44522;44523 | chr2:178574641;178574640;178574639 | chr2:179439368;179439367;179439366 |
| Novex-1 | 14891 | 44896;44897;44898 | chr2:178574641;178574640;178574639 | chr2:179439368;179439367;179439366 |
| Novex-2 | 14958 | 45097;45098;45099 | chr2:178574641;178574640;178574639 | chr2:179439368;179439367;179439366 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/C | rs1200630554  |
-0.456 | 1.0 | D | 0.769 | 0.567 | 0.757097561137 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| G/C | rs1200630554 |
-0.456 | 1.0 | D | 0.769 | 0.567 | 0.757097561137 | gnomAD-4.0.0 | 6.84588E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9979E-07 | 0 | 0 |
| G/V | rs746618179 |
0.108 | 1.0 | N | 0.803 | 0.549 | 0.751024834577 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| G/V | rs746618179 |
0.108 | 1.0 | N | 0.803 | 0.549 | 0.751024834577 | gnomAD-4.0.0 | 4.78022E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72354E-06 | 0 | 3.02755E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2549 | likely_benign | 0.2555 | benign | -0.815 | Destabilizing | 1.0 | D | 0.601 | neutral | N | 0.476559798 | None | None | N |
| G/C | 0.4431 | ambiguous | 0.4131 | ambiguous | -1.001 | Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.529101818 | None | None | N |
| G/D | 0.6453 | likely_pathogenic | 0.692 | pathogenic | -2.038 | Highly Destabilizing | 1.0 | D | 0.751 | deleterious | N | 0.476332762 | None | None | N |
| G/E | 0.6486 | likely_pathogenic | 0.6856 | pathogenic | -2.028 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/F | 0.8906 | likely_pathogenic | 0.8725 | pathogenic | -1.011 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| G/H | 0.8073 | likely_pathogenic | 0.799 | pathogenic | -1.758 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| G/I | 0.7902 | likely_pathogenic | 0.7563 | pathogenic | -0.205 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| G/K | 0.8527 | likely_pathogenic | 0.8437 | pathogenic | -1.421 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/L | 0.7604 | likely_pathogenic | 0.7536 | pathogenic | -0.205 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| G/M | 0.7994 | likely_pathogenic | 0.7893 | pathogenic | -0.165 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| G/N | 0.6354 | likely_pathogenic | 0.6418 | pathogenic | -1.226 | Destabilizing | 1.0 | D | 0.658 | neutral | None | None | None | None | N |
| G/P | 0.9472 | likely_pathogenic | 0.9446 | pathogenic | -0.367 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| G/Q | 0.7026 | likely_pathogenic | 0.6905 | pathogenic | -1.324 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| G/R | 0.7398 | likely_pathogenic | 0.7063 | pathogenic | -1.233 | Destabilizing | 1.0 | D | 0.781 | deleterious | N | 0.494522241 | None | None | N |
| G/S | 0.1621 | likely_benign | 0.1623 | benign | -1.422 | Destabilizing | 1.0 | D | 0.657 | neutral | N | 0.500605117 | None | None | N |
| G/T | 0.4141 | ambiguous | 0.4011 | ambiguous | -1.339 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| G/V | 0.6178 | likely_pathogenic | 0.5791 | pathogenic | -0.367 | Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.496500932 | None | None | N |
| G/W | 0.8485 | likely_pathogenic | 0.8236 | pathogenic | -1.58 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| G/Y | 0.7975 | likely_pathogenic | 0.7823 | pathogenic | -1.114 | Destabilizing | 1.0 | D | 0.789 | 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.