Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31591 | 94996;94997;94998 | chr2:178546657;178546656;178546655 | chr2:179411384;179411383;179411382 |
| N2AB | 29950 | 90073;90074;90075 | chr2:178546657;178546656;178546655 | chr2:179411384;179411383;179411382 |
| N2A | 29023 | 87292;87293;87294 | chr2:178546657;178546656;178546655 | chr2:179411384;179411383;179411382 |
| N2B | 22526 | 67801;67802;67803 | chr2:178546657;178546656;178546655 | chr2:179411384;179411383;179411382 |
| Novex-1 | 22651 | 68176;68177;68178 | chr2:178546657;178546656;178546655 | chr2:179411384;179411383;179411382 |
| Novex-2 | 22718 | 68377;68378;68379 | chr2:178546657;178546656;178546655 | chr2:179411384;179411383;179411382 |
| 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/A | None | None | 1.0 | D | 0.787 | 0.58 | 0.51754283126 | gnomAD-4.0.0 | 6.84265E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99523E-06 | 0 | 0 |
| G/D | None | None | 1.0 | D | 0.895 | 0.564 | 0.55861862702 | gnomAD-4.0.0 | 1.36853E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.04108E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs1697305563  |
None | 1.0 | D | 0.887 | 0.583 | 0.781312296865 | gnomAD-4.0.0 | 3.18312E-06 | None | None | None | None | I | None | 0 | 2.28718E-05 | None | 0 | 0 | None | 0 | 0 | 2.85879E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7031 | likely_pathogenic | 0.6208 | pathogenic | -0.35 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.552256772 | None | None | I |
| G/C | 0.8226 | likely_pathogenic | 0.7584 | pathogenic | -0.958 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.571628474 | None | None | I |
| G/D | 0.7987 | likely_pathogenic | 0.7617 | pathogenic | -0.733 | Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.53030463 | None | None | I |
| G/E | 0.9014 | likely_pathogenic | 0.8624 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | I |
| G/F | 0.984 | likely_pathogenic | 0.9741 | pathogenic | -1.04 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| G/H | 0.9382 | likely_pathogenic | 0.9096 | pathogenic | -0.537 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| G/I | 0.9829 | likely_pathogenic | 0.973 | pathogenic | -0.489 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | I |
| G/K | 0.9735 | likely_pathogenic | 0.9568 | pathogenic | -0.95 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/L | 0.9591 | likely_pathogenic | 0.9329 | pathogenic | -0.489 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/M | 0.964 | likely_pathogenic | 0.941 | pathogenic | -0.548 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/N | 0.6905 | likely_pathogenic | 0.6068 | pathogenic | -0.627 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/P | 0.999 | likely_pathogenic | 0.9986 | pathogenic | -0.41 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | I |
| G/Q | 0.8906 | likely_pathogenic | 0.8441 | pathogenic | -0.914 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | I |
| G/R | 0.9319 | likely_pathogenic | 0.8993 | pathogenic | -0.455 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.547990811 | None | None | I |
| G/S | 0.413 | ambiguous | 0.3265 | benign | -0.754 | Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.547230342 | None | None | I |
| G/T | 0.8611 | likely_pathogenic | 0.8017 | pathogenic | -0.846 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | I |
| G/V | 0.9545 | likely_pathogenic | 0.9328 | pathogenic | -0.41 | Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.547483832 | None | None | I |
| G/W | 0.969 | likely_pathogenic | 0.9566 | pathogenic | -1.191 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/Y | 0.9587 | likely_pathogenic | 0.9379 | pathogenic | -0.857 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
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.