Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3481 | 10666;10667;10668 | chr2:178757779;178757778;178757777 | chr2:179622506;179622505;179622504 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3435 | 10528;10529;10530 | chr2:178757779;178757778;178757777 | chr2:179622506;179622505;179622504 |
| 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 | rs748619545  |
-0.745 | None | None | None | 0.046 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65728E-04 |
| T/A | rs748619545 |
-0.745 | None | None | None | 0.046 | None | gnomAD-4.0.0 | 1.59133E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02407E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1518 | likely_benign | None | None | -0.756 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/C | 0.7774 | likely_pathogenic | None | None | -0.473 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/D | 0.7184 | likely_pathogenic | None | None | -0.016 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/E | 0.626 | likely_pathogenic | None | None | 0.002 | Stabilizing | None | None | None | None | None | None | None | None | I |
| T/F | 0.6612 | likely_pathogenic | None | None | -0.776 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/G | 0.5707 | likely_pathogenic | None | None | -1.033 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/H | 0.6331 | likely_pathogenic | None | None | -1.27 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/I | 0.3944 | ambiguous | None | None | -0.111 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/K | 0.4588 | ambiguous | None | None | -0.661 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/L | 0.2854 | likely_benign | None | None | -0.111 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/M | 0.1451 | likely_benign | None | None | 0.058 | Stabilizing | None | None | None | None | None | None | None | None | I |
| T/N | 0.2561 | likely_benign | None | None | -0.638 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/P | 0.2485 | likely_benign | None | None | -0.292 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/Q | 0.5277 | ambiguous | None | None | -0.729 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/R | 0.406 | ambiguous | None | None | -0.491 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/S | 0.2795 | likely_benign | None | None | -0.939 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/V | 0.2984 | likely_benign | None | None | -0.292 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/W | 0.8987 | likely_pathogenic | None | None | -0.736 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/Y | 0.6281 | likely_pathogenic | None | None | -0.492 | 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.