Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3675 | 11248;11249;11250 | chr2:178756453;178756452;178756451 | chr2:179621180;179621179;179621178 |
| 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 | 3504 | 10735;10736;10737 | chr2:178756453;178756452;178756451 | chr2:179621180;179621179;179621178 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs1046292255  |
None | None | None | None | 0.056 | None | gnomAD-4.0.0 | 1.59135E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85811E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.3774 | ambiguous | None | None | -0.439 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/C | 0.8136 | likely_pathogenic | None | None | 0.119 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/E | 0.3439 | ambiguous | None | None | -0.494 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/F | 0.7837 | likely_pathogenic | None | None | -0.522 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/G | 0.3501 | ambiguous | None | None | -0.658 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/H | 0.5147 | ambiguous | None | None | -0.633 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/I | 0.7141 | likely_pathogenic | None | None | 0.097 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/K | 0.5855 | likely_pathogenic | None | None | 0.207 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/L | 0.7398 | likely_pathogenic | None | None | 0.097 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/M | 0.8307 | likely_pathogenic | None | None | 0.463 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/N | 0.1559 | likely_benign | None | None | -0.061 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/P | 0.9783 | likely_pathogenic | None | None | -0.059 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/Q | 0.559 | ambiguous | None | None | -0.046 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/R | 0.6336 | likely_pathogenic | None | None | 0.238 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/S | 0.2311 | likely_benign | None | None | -0.188 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/T | 0.5481 | ambiguous | None | None | -0.019 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/V | 0.5057 | ambiguous | None | None | -0.059 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/W | 0.959 | likely_pathogenic | None | None | -0.413 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/Y | 0.3494 | ambiguous | None | None | -0.288 | 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.