Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3475 | 10648;10649;10650 | chr2:178757797;178757796;178757795 | chr2:179622524;179622523;179622522 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3429 | 10510;10511;10512 | chr2:178757797;178757796;178757795 | chr2:179622524;179622523;179622522 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/K | None | None | None | None | None | 0.151 | None | gnomAD-4.0.0 | 1.59276E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86154E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.3669 | ambiguous | None | None | 0.041 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/C | 0.1912 | likely_benign | None | None | -0.007 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/D | 0.6592 | likely_pathogenic | None | None | -0.07 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/E | 0.3541 | ambiguous | None | None | 0.006 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/F | 0.5763 | likely_pathogenic | None | None | -0.09 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/G | 0.3439 | ambiguous | None | None | -0.182 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/H | 0.1064 | likely_benign | None | None | -0.745 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/I | 0.238 | likely_benign | None | None | 0.597 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/K | 0.1458 | likely_benign | None | None | -0.01 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/L | 0.2356 | likely_benign | None | None | 0.597 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/M | 0.2866 | likely_benign | None | None | 0.133 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/N | 0.5512 | ambiguous | None | None | 0.278 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/P | 0.7 | likely_pathogenic | None | None | 0.433 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/Q | 0.1117 | likely_benign | None | None | 0.185 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/S | 0.413 | ambiguous | None | None | -0.062 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/T | 0.1834 | likely_benign | None | None | 0.156 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/V | 0.3206 | likely_benign | None | None | 0.433 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/W | 0.2136 | likely_benign | None | None | -0.119 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/Y | 0.4297 | ambiguous | None | None | 0.278 | Stabilizing | 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.