Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21143 | 63652;63653;63654 | chr2:178587980;178587979;178587978 | chr2:179452707;179452706;179452705 |
| N2AB | 19502 | 58729;58730;58731 | chr2:178587980;178587979;178587978 | chr2:179452707;179452706;179452705 |
| N2A | 18575 | 55948;55949;55950 | chr2:178587980;178587979;178587978 | chr2:179452707;179452706;179452705 |
| N2B | 12078 | 36457;36458;36459 | chr2:178587980;178587979;178587978 | chr2:179452707;179452706;179452705 |
| Novex-1 | 12203 | 36832;36833;36834 | chr2:178587980;178587979;178587978 | chr2:179452707;179452706;179452705 |
| Novex-2 | 12270 | 37033;37034;37035 | chr2:178587980;178587979;178587978 | chr2:179452707;179452706;179452705 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | None | None | 0.999 | N | 0.589 | 0.561 | 0.470648230714 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/S | None | None | 1.0 | D | 0.765 | 0.74 | 0.857443246798 | gnomAD-4.0.0 | 1.595E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.79486E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9854 | likely_pathogenic | 0.986 | pathogenic | -2.322 | Highly Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| F/C | 0.9266 | likely_pathogenic | 0.9318 | pathogenic | -1.606 | Destabilizing | 1.0 | D | 0.802 | deleterious | D | 0.552733617 | None | None | N |
| F/D | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -3.49 | Highly Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| F/E | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -3.266 | Highly Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| F/G | 0.9905 | likely_pathogenic | 0.9904 | pathogenic | -2.736 | Highly Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| F/H | 0.9946 | likely_pathogenic | 0.9952 | pathogenic | -2.147 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| F/I | 0.6352 | likely_pathogenic | 0.6428 | pathogenic | -0.953 | Destabilizing | 1.0 | D | 0.749 | deleterious | N | 0.486425301 | None | None | N |
| F/K | 0.9986 | likely_pathogenic | 0.9988 | pathogenic | -2.415 | Highly Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| F/L | 0.9544 | likely_pathogenic | 0.955 | pathogenic | -0.953 | Destabilizing | 0.999 | D | 0.589 | neutral | N | 0.503821994 | None | None | N |
| F/M | 0.8485 | likely_pathogenic | 0.8505 | pathogenic | -0.797 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| F/N | 0.9965 | likely_pathogenic | 0.9967 | pathogenic | -3.163 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| F/P | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.424 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| F/Q | 0.9982 | likely_pathogenic | 0.9984 | pathogenic | -2.886 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| F/R | 0.997 | likely_pathogenic | 0.9974 | pathogenic | -2.417 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| F/S | 0.9948 | likely_pathogenic | 0.9951 | pathogenic | -3.455 | Highly Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.552733617 | None | None | N |
| F/T | 0.9927 | likely_pathogenic | 0.9933 | pathogenic | -3.109 | Highly Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| F/V | 0.7318 | likely_pathogenic | 0.7392 | pathogenic | -1.424 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | N | 0.483939631 | None | None | N |
| F/W | 0.9024 | likely_pathogenic | 0.9107 | pathogenic | -0.65 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| F/Y | 0.6321 | likely_pathogenic | 0.6442 | pathogenic | -1.0 | Destabilizing | 0.999 | D | 0.524 | neutral | N | 0.508015957 | 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.