Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3539 | 10840;10841;10842 | chr2:178757605;178757604;178757603 | chr2:179622332;179622331;179622330 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3493 | 10702;10703;10704 | chr2:178757605;178757604;178757603 | chr2:179622332;179622331;179622330 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/S | rs750647730  |
-2.256 | None | None | None | 0.595 | None | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/S | rs750647730 |
-2.256 | None | None | None | 0.595 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/S | rs750647730 |
-2.256 | None | None | None | 0.595 | None | gnomAD-4.0.0 | 1.24271E-06 | None | None | None | None | N | None | 1.33676E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60617E-05 |
| C/W | None | None | None | None | None | 0.53 | None | gnomAD-4.0.0 | 6.86226E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.02042E-07 | 0 | 0 |
| C/Y | None | None | None | None | None | 0.52 | None | gnomAD-4.0.0 | 1.37246E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80401E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.8891 | likely_pathogenic | None | None | -1.485 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/D | 0.9995 | likely_pathogenic | None | None | -1.381 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/E | 0.9996 | likely_pathogenic | None | None | -1.119 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/F | 0.8003 | likely_pathogenic | None | None | -0.876 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/G | 0.8416 | likely_pathogenic | None | None | -1.871 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/H | 0.9978 | likely_pathogenic | None | None | -2.072 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| C/I | 0.8186 | likely_pathogenic | None | None | -0.431 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/K | 0.9996 | likely_pathogenic | None | None | -0.804 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/L | 0.7218 | likely_pathogenic | None | None | -0.431 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/M | 0.9378 | likely_pathogenic | None | None | 0.398 | Stabilizing | None | None | None | None | None | None | None | None | N |
| C/N | 0.9974 | likely_pathogenic | None | None | -1.569 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/P | 0.9991 | likely_pathogenic | None | None | -0.76 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/Q | 0.9981 | likely_pathogenic | None | None | -1.02 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/R | 0.9936 | likely_pathogenic | None | None | -1.348 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/S | 0.9535 | likely_pathogenic | None | None | -1.841 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/T | 0.9685 | likely_pathogenic | None | None | -1.377 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/V | 0.7044 | likely_pathogenic | None | None | -0.76 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/W | 0.9891 | likely_pathogenic | None | None | -1.285 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/Y | 0.9735 | likely_pathogenic | None | None | -1.059 | 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.