Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16774 | 50545;50546;50547 | chr2:178612091;178612090;178612089 | chr2:179476818;179476817;179476816 |
| N2AB | 15133 | 45622;45623;45624 | chr2:178612091;178612090;178612089 | chr2:179476818;179476817;179476816 |
| N2A | 14206 | 42841;42842;42843 | chr2:178612091;178612090;178612089 | chr2:179476818;179476817;179476816 |
| N2B | 7709 | 23350;23351;23352 | chr2:178612091;178612090;178612089 | chr2:179476818;179476817;179476816 |
| Novex-1 | 7834 | 23725;23726;23727 | chr2:178612091;178612090;178612089 | chr2:179476818;179476817;179476816 |
| Novex-2 | 7901 | 23926;23927;23928 | chr2:178612091;178612090;178612089 | chr2:179476818;179476817;179476816 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | None | None | 0.005 | N | 0.251 | 0.232 | 0.236278675362 | gnomAD-4.0.0 | 6.851E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00153E-07 | 0 | 0 |
| P/Q | None | None | 0.934 | N | 0.568 | 0.33 | 0.391930172978 | gnomAD-4.0.0 | 4.11045E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.4008E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0748 | likely_benign | 0.0704 | benign | -1.929 | Destabilizing | 0.005 | N | 0.251 | neutral | N | 0.471181801 | None | None | N |
| P/C | 0.7325 | likely_pathogenic | 0.7121 | pathogenic | -1.11 | Destabilizing | 0.998 | D | 0.613 | neutral | None | None | None | None | N |
| P/D | 0.8339 | likely_pathogenic | 0.7907 | pathogenic | -2.52 | Highly Destabilizing | 0.728 | D | 0.46 | neutral | None | None | None | None | N |
| P/E | 0.4642 | ambiguous | 0.4051 | ambiguous | -2.371 | Highly Destabilizing | 0.029 | N | 0.241 | neutral | None | None | None | None | N |
| P/F | 0.7799 | likely_pathogenic | 0.7401 | pathogenic | -1.362 | Destabilizing | 0.991 | D | 0.619 | neutral | None | None | None | None | N |
| P/G | 0.5377 | ambiguous | 0.5301 | ambiguous | -2.337 | Highly Destabilizing | 0.728 | D | 0.507 | neutral | None | None | None | None | N |
| P/H | 0.4586 | ambiguous | 0.3854 | ambiguous | -1.873 | Destabilizing | 0.998 | D | 0.591 | neutral | None | None | None | None | N |
| P/I | 0.5147 | ambiguous | 0.4683 | ambiguous | -0.817 | Destabilizing | 0.949 | D | 0.622 | neutral | None | None | None | None | N |
| P/K | 0.4676 | ambiguous | 0.3456 | ambiguous | -1.669 | Destabilizing | 0.842 | D | 0.456 | neutral | None | None | None | None | N |
| P/L | 0.2244 | likely_benign | 0.194 | benign | -0.817 | Destabilizing | 0.801 | D | 0.553 | neutral | D | 0.579566232 | None | None | N |
| P/M | 0.4832 | ambiguous | 0.4396 | ambiguous | -0.596 | Destabilizing | 0.998 | D | 0.586 | neutral | None | None | None | None | N |
| P/N | 0.6978 | likely_pathogenic | 0.6487 | pathogenic | -1.799 | Destabilizing | 0.974 | D | 0.611 | neutral | None | None | None | None | N |
| P/Q | 0.2574 | likely_benign | 0.2069 | benign | -1.813 | Destabilizing | 0.934 | D | 0.568 | neutral | N | 0.482906011 | None | None | N |
| P/R | 0.3576 | ambiguous | 0.26 | benign | -1.273 | Destabilizing | 0.934 | D | 0.609 | neutral | N | 0.492385122 | None | None | N |
| P/S | 0.2408 | likely_benign | 0.2163 | benign | -2.275 | Highly Destabilizing | 0.669 | D | 0.483 | neutral | D | 0.52665497 | None | None | N |
| P/T | 0.2546 | likely_benign | 0.2219 | benign | -2.012 | Highly Destabilizing | 0.801 | D | 0.451 | neutral | N | 0.517775282 | None | None | N |
| P/V | 0.36 | ambiguous | 0.3265 | benign | -1.162 | Destabilizing | 0.728 | D | 0.514 | neutral | None | None | None | None | N |
| P/W | 0.9283 | likely_pathogenic | 0.9127 | pathogenic | -1.759 | Destabilizing | 0.998 | D | 0.66 | neutral | None | None | None | None | N |
| P/Y | 0.7585 | likely_pathogenic | 0.7045 | pathogenic | -1.381 | Destabilizing | 0.991 | D | 0.617 | neutral | 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.