Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3519 | 10780;10781;10782 | chr2:178757665;178757664;178757663 | chr2:179622392;179622391;179622390 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3473 | 10642;10643;10644 | chr2:178757665;178757664;178757663 | chr2:179622392;179622391;179622390 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs1459818579  |
-0.054 | None | None | None | 0.177 | None | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1923 | likely_benign | None | None | -0.454 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/C | 0.7795 | likely_pathogenic | None | None | -0.229 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/D | 0.6755 | likely_pathogenic | None | None | 0.143 | Stabilizing | None | None | None | None | None | None | None | None | I |
| T/E | 0.6255 | likely_pathogenic | None | None | 0.067 | Stabilizing | None | None | None | None | None | None | None | None | I |
| T/F | 0.7256 | likely_pathogenic | None | None | -0.916 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/G | 0.4853 | ambiguous | None | None | -0.592 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/H | 0.5951 | likely_pathogenic | None | None | -0.881 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/I | 0.6724 | likely_pathogenic | None | None | -0.206 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/K | 0.5461 | ambiguous | None | None | -0.381 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/L | 0.3348 | likely_benign | None | None | -0.206 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/M | 0.2702 | likely_benign | None | None | 0.086 | Stabilizing | None | None | None | None | None | None | None | None | I |
| T/N | 0.3065 | likely_benign | None | None | -0.152 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/P | 0.4275 | ambiguous | None | None | -0.26 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/Q | 0.5255 | ambiguous | None | None | -0.416 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/R | 0.424 | ambiguous | None | None | -0.071 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/S | 0.1874 | likely_benign | None | None | -0.397 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/V | 0.5163 | ambiguous | None | None | -0.26 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/W | 0.868 | likely_pathogenic | None | None | -0.887 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/Y | 0.7329 | likely_pathogenic | None | None | -0.619 | 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.