Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3695 | 11308;11309;11310 | chr2:178756393;178756392;178756391 | chr2:179621120;179621119;179621118 |
| 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 | 3524 | 10795;10796;10797 | chr2:178756393;178756392;178756391 | chr2:179621120;179621119;179621118 |
| 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/Y | rs2086951043  |
None | None | None | None | 0.079 | None | gnomAD-4.0.0 | 2.73687E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.5978E-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 | 0.6904 | likely_pathogenic | None | None | -1.157 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/C | 0.262 | likely_benign | None | None | -0.55 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/D | 0.6878 | likely_pathogenic | None | None | -0.591 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/E | 0.6907 | likely_pathogenic | None | None | -0.477 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/F | 0.5449 | ambiguous | None | None | -0.108 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/G | 0.7446 | likely_pathogenic | None | None | -1.524 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/I | 0.6803 | likely_pathogenic | None | None | -0.133 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/K | 0.3679 | ambiguous | None | None | -0.752 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/L | 0.279 | likely_benign | None | None | -0.133 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/M | 0.779 | likely_pathogenic | None | None | -0.308 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/N | 0.2983 | likely_benign | None | None | -0.913 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/P | 0.8502 | likely_pathogenic | None | None | -0.456 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/Q | 0.3794 | ambiguous | None | None | -0.686 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/R | 0.1349 | likely_benign | None | None | -0.927 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/S | 0.5797 | likely_pathogenic | None | None | -1.149 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/T | 0.7297 | likely_pathogenic | None | None | -0.925 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/V | 0.6175 | likely_pathogenic | None | None | -0.456 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/W | 0.5669 | likely_pathogenic | None | None | 0.257 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/Y | 0.1559 | likely_benign | None | None | 0.402 | 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.