Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3678 | 11257;11258;11259 | chr2:178756444;178756443;178756442 | chr2:179621171;179621170;179621169 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | 3507 | 10744;10745;10746 | chr2:178756444;178756443;178756442 | chr2:179621171;179621170;179621169 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | rs552438291  |
0.469 | None | None | None | 0.051 | None | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| Q/E | rs552438291 |
0.469 | None | None | None | 0.051 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| Q/E | rs552438291 |
0.469 | None | None | None | 0.051 | None | gnomAD-4.0.0 | 1.28111E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39284E-05 | 0 | 0 |
| Q/R | None | None | None | None | None | 0.08 | None | gnomAD-4.0.0 | 6.84225E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15937E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.3934 | ambiguous | None | None | -0.761 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/C | 0.7599 | likely_pathogenic | None | None | -0.117 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/D | 0.6084 | likely_pathogenic | None | None | -0.097 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/E | 0.1083 | likely_benign | None | None | 0.054 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/F | 0.836 | likely_pathogenic | None | None | -0.456 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/G | 0.528 | ambiguous | None | None | -1.127 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/H | 0.3183 | likely_benign | None | None | -0.599 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/I | 0.5196 | ambiguous | None | None | 0.187 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/K | 0.1349 | likely_benign | None | None | -0.028 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/L | 0.273 | likely_benign | None | None | 0.187 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/M | 0.562 | ambiguous | None | None | 0.39 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/N | 0.457 | ambiguous | None | None | -0.733 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/P | 0.744 | likely_pathogenic | None | None | -0.1 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/R | 0.1316 | likely_benign | None | None | 0.011 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/S | 0.3621 | ambiguous | None | None | -0.965 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/T | 0.2706 | likely_benign | None | None | -0.598 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/V | 0.3636 | ambiguous | None | None | -0.1 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/W | 0.708 | likely_pathogenic | None | None | -0.297 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/Y | 0.6064 | likely_pathogenic | None | None | -0.046 | 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.