Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3507 | 10744;10745;10746 | chr2:178757701;178757700;178757699 | chr2:179622428;179622427;179622426 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3461 | 10606;10607;10608 | chr2:178757701;178757700;178757699 | chr2:179622428;179622427;179622426 |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs1161132850  |
None | None | None | None | 0.335 | None | gnomAD-4.0.0 | 4.78932E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29619E-06 | 0 | 0 |
| P/S | rs773449874 |
-1.204 | None | None | None | 0.208 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.66E-05 | 0 |
| P/S | rs773449874 |
-1.204 | None | None | None | 0.208 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/S | rs773449874 |
-1.204 | None | None | None | 0.208 | None | gnomAD-4.0.0 | 3.03655E-05 | None | None | None | None | I | None | 1.33494E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.06857E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1959 | likely_benign | None | None | -0.757 | Destabilizing | None | None | None | None | None | None | None | None | I |
| P/C | 0.8778 | likely_pathogenic | None | None | -0.782 | Destabilizing | None | None | None | None | None | None | None | None | I |
| P/D | 0.7849 | likely_pathogenic | None | None | -0.411 | Destabilizing | None | None | None | None | None | None | None | None | I |
| P/E | 0.5722 | likely_pathogenic | None | None | -0.434 | Destabilizing | None | None | None | None | None | None | None | None | I |
| P/F | 0.9025 | likely_pathogenic | None | None | -0.606 | Destabilizing | None | None | None | None | None | None | None | None | I |
| P/G | 0.6517 | likely_pathogenic | None | None | -0.982 | Destabilizing | None | None | None | None | None | None | None | None | I |
| P/H | 0.4915 | ambiguous | None | None | -0.334 | Destabilizing | None | None | None | None | None | None | None | None | I |
| P/I | 0.8196 | likely_pathogenic | None | None | -0.267 | Destabilizing | None | None | None | None | None | None | None | None | I |
| P/K | 0.637 | likely_pathogenic | None | None | -0.652 | Destabilizing | None | None | None | None | None | None | None | None | I |
| P/L | 0.3558 | ambiguous | None | None | -0.267 | Destabilizing | None | None | None | None | None | None | None | None | I |
| P/M | 0.7821 | likely_pathogenic | None | None | -0.516 | Destabilizing | None | None | None | None | None | None | None | None | I |
| P/N | 0.7078 | likely_pathogenic | None | None | -0.603 | Destabilizing | None | None | None | None | None | None | None | None | I |
| P/Q | 0.3577 | ambiguous | None | None | -0.709 | Destabilizing | None | None | None | None | None | None | None | None | I |
| P/R | 0.4126 | ambiguous | None | None | -0.209 | Destabilizing | None | None | None | None | None | None | None | None | I |
| P/S | 0.3105 | likely_benign | None | None | -1.035 | Destabilizing | None | None | None | None | None | None | None | None | I |
| P/T | 0.3419 | ambiguous | None | None | -0.94 | Destabilizing | None | None | None | None | None | None | None | None | I |
| P/V | 0.6506 | likely_pathogenic | None | None | -0.396 | Destabilizing | None | None | None | None | None | None | None | None | I |
| P/W | 0.942 | likely_pathogenic | None | None | -0.747 | Destabilizing | None | None | None | None | None | None | None | None | I |
| P/Y | 0.8394 | likely_pathogenic | None | None | -0.441 | Destabilizing | None | None | None | None | 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.