Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3471 | 10636;10637;10638 | chr2:178757809;178757808;178757807 | chr2:179622536;179622535;179622534 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3425 | 10498;10499;10500 | chr2:178757809;178757808;178757807 | chr2:179622536;179622535;179622534 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/V | rs373569134  |
-1.56 | None | None | None | 0.118 | None | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | N | None | 4.14E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.14E-05 | 0 |
| L/V | rs373569134 |
-1.56 | None | None | None | 0.118 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| L/V | rs373569134 |
-1.56 | None | None | None | 0.118 | None | gnomAD-4.0.0 | 2.23413E-05 | None | None | None | None | N | None | 2.67173E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.71597E-05 | 0 | 3.20708E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.8759 | likely_pathogenic | None | None | -2.441 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/C | 0.9392 | likely_pathogenic | None | None | -1.665 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/D | 0.9971 | likely_pathogenic | None | None | -2.618 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/E | 0.9855 | likely_pathogenic | None | None | -2.41 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/F | 0.631 | likely_pathogenic | None | None | -1.4 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/G | 0.9871 | likely_pathogenic | None | None | -2.982 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/H | 0.9755 | likely_pathogenic | None | None | -2.469 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/I | 0.1297 | likely_benign | None | None | -0.884 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/K | 0.9781 | likely_pathogenic | None | None | -1.756 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/M | 0.3337 | likely_benign | None | None | -0.815 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/N | 0.9832 | likely_pathogenic | None | None | -1.991 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/P | 0.7831 | likely_pathogenic | None | None | -1.383 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/Q | 0.9493 | likely_pathogenic | None | None | -1.876 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/R | 0.9659 | likely_pathogenic | None | None | -1.507 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/S | 0.9723 | likely_pathogenic | None | None | -2.7 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/T | 0.9091 | likely_pathogenic | None | None | -2.348 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/V | 0.2092 | likely_benign | None | None | -1.383 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/W | 0.9663 | likely_pathogenic | None | None | -1.794 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/Y | 0.9763 | likely_pathogenic | None | None | -1.515 | 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.