Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16875 | 50848;50849;50850 | chr2:178611606;178611605;178611604 | chr2:179476333;179476332;179476331 |
| N2AB | 15234 | 45925;45926;45927 | chr2:178611606;178611605;178611604 | chr2:179476333;179476332;179476331 |
| N2A | 14307 | 43144;43145;43146 | chr2:178611606;178611605;178611604 | chr2:179476333;179476332;179476331 |
| N2B | 7810 | 23653;23654;23655 | chr2:178611606;178611605;178611604 | chr2:179476333;179476332;179476331 |
| Novex-1 | 7935 | 24028;24029;24030 | chr2:178611606;178611605;178611604 | chr2:179476333;179476332;179476331 |
| Novex-2 | 8002 | 24229;24230;24231 | chr2:178611606;178611605;178611604 | chr2:179476333;179476332;179476331 |
| 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 | 0.619 | N | 0.371 | 0.235 | 0.218112801441 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| P/L | rs776726020  |
-0.6 | 0.998 | D | 0.828 | 0.452 | 0.75522204045 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| P/L | rs776726020 |
-0.6 | 0.998 | D | 0.828 | 0.452 | 0.75522204045 | gnomAD-4.0.0 | 1.5929E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43328E-05 | 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 | 0.0938 | likely_benign | 0.0844 | benign | -1.979 | Destabilizing | 0.619 | D | 0.371 | neutral | N | 0.484002655 | None | None | N |
| P/C | 0.7947 | likely_pathogenic | 0.7318 | pathogenic | -1.275 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/D | 0.812 | likely_pathogenic | 0.7875 | pathogenic | -2.313 | Highly Destabilizing | 0.999 | D | 0.819 | deleterious | None | None | None | None | N |
| P/E | 0.4593 | ambiguous | 0.434 | ambiguous | -2.158 | Highly Destabilizing | 0.999 | D | 0.817 | deleterious | None | None | None | None | N |
| P/F | 0.8029 | likely_pathogenic | 0.7519 | pathogenic | -1.35 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| P/G | 0.6165 | likely_pathogenic | 0.5512 | ambiguous | -2.403 | Highly Destabilizing | 0.988 | D | 0.753 | deleterious | None | None | None | None | N |
| P/H | 0.4647 | ambiguous | 0.4044 | ambiguous | -1.798 | Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.655860305 | None | None | N |
| P/I | 0.4627 | ambiguous | 0.4176 | ambiguous | -0.824 | Destabilizing | 0.999 | D | 0.881 | deleterious | None | None | None | None | N |
| P/K | 0.5364 | ambiguous | 0.4852 | ambiguous | -1.689 | Destabilizing | 0.998 | D | 0.829 | deleterious | None | None | None | None | N |
| P/L | 0.1923 | likely_benign | 0.1649 | benign | -0.824 | Destabilizing | 0.998 | D | 0.828 | deleterious | D | 0.616648243 | None | None | N |
| P/M | 0.432 | ambiguous | 0.3866 | ambiguous | -0.692 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/N | 0.6398 | likely_pathogenic | 0.6101 | pathogenic | -1.85 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| P/Q | 0.2406 | likely_benign | 0.2101 | benign | -1.829 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/R | 0.4506 | ambiguous | 0.3856 | ambiguous | -1.322 | Destabilizing | 0.999 | D | 0.877 | deleterious | N | 0.509185545 | None | None | N |
| P/S | 0.2441 | likely_benign | 0.2075 | benign | -2.388 | Highly Destabilizing | 0.995 | D | 0.758 | deleterious | D | 0.547207718 | None | None | N |
| P/T | 0.1986 | likely_benign | 0.1741 | benign | -2.101 | Highly Destabilizing | 0.998 | D | 0.778 | deleterious | D | 0.553543713 | None | None | N |
| P/V | 0.3193 | likely_benign | 0.2823 | benign | -1.183 | Destabilizing | 0.998 | D | 0.782 | deleterious | None | None | None | None | N |
| P/W | 0.9398 | likely_pathogenic | 0.9151 | pathogenic | -1.669 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/Y | 0.7807 | likely_pathogenic | 0.7411 | pathogenic | -1.325 | Destabilizing | 1.0 | D | 0.879 | deleterious | 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.