Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3485 | 10678;10679;10680 | chr2:178757767;178757766;178757765 | chr2:179622494;179622493;179622492 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3439 | 10540;10541;10542 | chr2:178757767;178757766;178757765 | chr2:179622494;179622493;179622492 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/N | rs376698955  |
-0.536 | None | None | None | 0.195 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| H/P | None | None | None | None | None | 0.311 | None | gnomAD-4.0.0 | 4.8013E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25002E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.6089 | likely_pathogenic | None | None | -0.844 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/C | 0.3912 | ambiguous | None | None | 0.052 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/D | 0.6122 | likely_pathogenic | None | None | -0.522 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/E | 0.6229 | likely_pathogenic | None | None | -0.392 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/F | 0.5054 | ambiguous | None | None | 0.648 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/G | 0.7223 | likely_pathogenic | None | None | -1.255 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/I | 0.5674 | likely_pathogenic | None | None | 0.31 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/K | 0.5752 | likely_pathogenic | None | None | -0.455 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/L | 0.2403 | likely_benign | None | None | 0.31 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/M | 0.7346 | likely_pathogenic | None | None | 0.103 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/N | 0.2566 | likely_benign | None | None | -0.649 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/P | 0.6426 | likely_pathogenic | None | None | -0.055 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/Q | 0.4082 | ambiguous | None | None | -0.356 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/R | 0.2696 | likely_benign | None | None | -1.048 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/S | 0.4416 | ambiguous | None | None | -0.703 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/T | 0.5598 | ambiguous | None | None | -0.455 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/V | 0.5014 | ambiguous | None | None | -0.055 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/W | 0.607 | likely_pathogenic | None | None | 1.044 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/Y | 0.1796 | likely_benign | None | None | 1.036 | 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.