Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3529 | 10810;10811;10812 | chr2:178757635;178757634;178757633 | chr2:179622362;179622361;179622360 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3483 | 10672;10673;10674 | chr2:178757635;178757634;178757633 | chr2:179622362;179622361;179622360 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/V | None | None | None | None | None | 0.269 | None | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7884 | likely_pathogenic | None | None | -1.915 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/D | 0.9629 | likely_pathogenic | None | None | -3.108 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| A/E | 0.9554 | likely_pathogenic | None | None | -2.92 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| A/F | 0.9422 | likely_pathogenic | None | None | -0.94 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/G | 0.3965 | ambiguous | None | None | -1.971 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/H | 0.979 | likely_pathogenic | None | None | -2.073 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| A/I | 0.7236 | likely_pathogenic | None | None | -0.377 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/K | 0.9851 | likely_pathogenic | None | None | -1.566 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/L | 0.7427 | likely_pathogenic | None | None | -0.377 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/M | 0.8153 | likely_pathogenic | None | None | -0.783 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/N | 0.9227 | likely_pathogenic | None | None | -2.0 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| A/P | 0.8794 | likely_pathogenic | None | None | -0.728 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/Q | 0.9552 | likely_pathogenic | None | None | -1.833 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/R | 0.9547 | likely_pathogenic | None | None | -1.529 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/S | 0.2129 | likely_benign | None | None | -2.358 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| A/T | 0.2303 | likely_benign | None | None | -2.059 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| A/V | 0.3725 | ambiguous | None | None | -0.728 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/W | 0.995 | likely_pathogenic | None | None | -1.631 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/Y | 0.9786 | likely_pathogenic | None | None | -1.219 | Destabilizing | None | None | None | None | 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.