Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22772 | 68539;68540;68541 | chr2:178578626;178578625;178578624 | chr2:179443353;179443352;179443351 |
| N2AB | 21131 | 63616;63617;63618 | chr2:178578626;178578625;178578624 | chr2:179443353;179443352;179443351 |
| N2A | 20204 | 60835;60836;60837 | chr2:178578626;178578625;178578624 | chr2:179443353;179443352;179443351 |
| N2B | 13707 | 41344;41345;41346 | chr2:178578626;178578625;178578624 | chr2:179443353;179443352;179443351 |
| Novex-1 | 13832 | 41719;41720;41721 | chr2:178578626;178578625;178578624 | chr2:179443353;179443352;179443351 |
| Novex-2 | 13899 | 41920;41921;41922 | chr2:178578626;178578625;178578624 | chr2:179443353;179443352;179443351 |
| 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 | None | None | 1.0 | D | 0.79 | 0.663 | 0.602958996521 | gnomAD-4.0.0 | 6.85506E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16656E-05 | 0 |
| G/D | None | None | 1.0 | D | 0.744 | 0.592 | 0.482936932564 | gnomAD-4.0.0 | 6.85484E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16637E-05 | 0 |
| G/R | rs1559480997  |
None | 1.0 | N | 0.815 | 0.626 | 0.501371821861 | gnomAD-4.0.0 | 4.79854E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.30377E-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 | 0.7669 | likely_pathogenic | 0.7985 | pathogenic | -0.225 | Destabilizing | 1.0 | D | 0.647 | neutral | N | 0.501818347 | None | None | I |
| G/C | 0.8277 | likely_pathogenic | 0.8737 | pathogenic | -0.921 | Destabilizing | 1.0 | D | 0.79 | deleterious | D | 0.564399999 | None | None | I |
| G/D | 0.8491 | likely_pathogenic | 0.8975 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.744 | deleterious | D | 0.52553169 | None | None | I |
| G/E | 0.9316 | likely_pathogenic | 0.9506 | pathogenic | -0.638 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/F | 0.971 | likely_pathogenic | 0.9714 | pathogenic | -0.992 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| G/H | 0.9372 | likely_pathogenic | 0.9517 | pathogenic | -0.32 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| G/I | 0.9566 | likely_pathogenic | 0.9629 | pathogenic | -0.49 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| G/K | 0.9503 | likely_pathogenic | 0.9638 | pathogenic | -0.533 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/L | 0.95 | likely_pathogenic | 0.9602 | pathogenic | -0.49 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| G/M | 0.9631 | likely_pathogenic | 0.9698 | pathogenic | -0.589 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/N | 0.8099 | likely_pathogenic | 0.8488 | pathogenic | -0.273 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | I |
| G/P | 0.9931 | likely_pathogenic | 0.9943 | pathogenic | -0.378 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/Q | 0.9174 | likely_pathogenic | 0.9379 | pathogenic | -0.526 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| G/R | 0.899 | likely_pathogenic | 0.9232 | pathogenic | -0.158 | Destabilizing | 1.0 | D | 0.815 | deleterious | N | 0.515505284 | None | None | I |
| G/S | 0.5174 | ambiguous | 0.5778 | pathogenic | -0.423 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | N | 0.512845485 | None | None | I |
| G/T | 0.8745 | likely_pathogenic | 0.9001 | pathogenic | -0.511 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/V | 0.9365 | likely_pathogenic | 0.949 | pathogenic | -0.378 | Destabilizing | 1.0 | D | 0.802 | deleterious | D | 0.546295744 | None | None | I |
| G/W | 0.9581 | likely_pathogenic | 0.9638 | pathogenic | -1.085 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/Y | 0.9396 | likely_pathogenic | 0.945 | pathogenic | -0.776 | Destabilizing | 1.0 | D | 0.779 | 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.