Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16809 | 50650;50651;50652 | chr2:178611884;178611883;178611882 | chr2:179476611;179476610;179476609 |
| N2AB | 15168 | 45727;45728;45729 | chr2:178611884;178611883;178611882 | chr2:179476611;179476610;179476609 |
| N2A | 14241 | 42946;42947;42948 | chr2:178611884;178611883;178611882 | chr2:179476611;179476610;179476609 |
| N2B | 7744 | 23455;23456;23457 | chr2:178611884;178611883;178611882 | chr2:179476611;179476610;179476609 |
| Novex-1 | 7869 | 23830;23831;23832 | chr2:178611884;178611883;178611882 | chr2:179476611;179476610;179476609 |
| Novex-2 | 7936 | 24031;24032;24033 | chr2:178611884;178611883;178611882 | chr2:179476611;179476610;179476609 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | None | None | 1.0 | N | 0.817 | 0.497 | 0.498830998431 | 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 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7309 | likely_pathogenic | 0.5506 | ambiguous | -2.113 | Highly Destabilizing | 0.998 | D | 0.545 | neutral | None | None | None | None | N |
| C/D | 0.9415 | likely_pathogenic | 0.8795 | pathogenic | -1.337 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| C/E | 0.9509 | likely_pathogenic | 0.8944 | pathogenic | -1.161 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| C/F | 0.6746 | likely_pathogenic | 0.5412 | ambiguous | -1.34 | Destabilizing | 1.0 | D | 0.788 | deleterious | N | 0.455427429 | None | None | N |
| C/G | 0.3908 | ambiguous | 0.2718 | benign | -2.458 | Highly Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.529438235 | None | None | N |
| C/H | 0.8537 | likely_pathogenic | 0.7067 | pathogenic | -2.342 | Highly Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| C/I | 0.8789 | likely_pathogenic | 0.7683 | pathogenic | -1.182 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| C/K | 0.9359 | likely_pathogenic | 0.8528 | pathogenic | -1.584 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| C/L | 0.6853 | likely_pathogenic | 0.5657 | pathogenic | -1.182 | Destabilizing | 0.999 | D | 0.558 | neutral | None | None | None | None | N |
| C/M | 0.842 | likely_pathogenic | 0.7462 | pathogenic | 0.208 | Stabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| C/N | 0.7491 | likely_pathogenic | 0.5816 | pathogenic | -1.904 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| C/P | 0.9431 | likely_pathogenic | 0.8771 | pathogenic | -1.471 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| C/Q | 0.8496 | likely_pathogenic | 0.7084 | pathogenic | -1.629 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| C/R | 0.7163 | likely_pathogenic | 0.5473 | ambiguous | -1.52 | Destabilizing | 1.0 | D | 0.817 | deleterious | N | 0.464777103 | None | None | N |
| C/S | 0.5677 | likely_pathogenic | 0.3755 | ambiguous | -2.367 | Highly Destabilizing | 1.0 | D | 0.722 | prob.delet. | N | 0.463717797 | None | None | N |
| C/T | 0.6772 | likely_pathogenic | 0.4712 | ambiguous | -2.011 | Highly Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| C/V | 0.7871 | likely_pathogenic | 0.6467 | pathogenic | -1.471 | Destabilizing | 0.999 | D | 0.634 | neutral | None | None | None | None | N |
| C/W | 0.8755 | likely_pathogenic | 0.8049 | pathogenic | -1.475 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.571968 | None | None | N |
| C/Y | 0.7143 | likely_pathogenic | 0.5749 | pathogenic | -1.463 | Destabilizing | 1.0 | D | 0.802 | deleterious | N | 0.486929927 | 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.