Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6125 | 18598;18599;18600 | chr2:178729880;178729879;178729878 | chr2:179594607;179594606;179594605 |
| N2AB | 5808 | 17647;17648;17649 | chr2:178729880;178729879;178729878 | chr2:179594607;179594606;179594605 |
| N2A | 4881 | 14866;14867;14868 | chr2:178729880;178729879;178729878 | chr2:179594607;179594606;179594605 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | 0.699 | 0.493 | 0.264081493735 | gnomAD-4.0.0 | 6.84338E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15945E-05 | 0 |
| F/S | rs375003845  |
-2.898 | 1.0 | D | 0.862 | 0.872 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| F/S | rs375003845 |
-2.898 | 1.0 | D | 0.862 | 0.872 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| F/S | rs375003845 |
-2.898 | 1.0 | D | 0.862 | 0.872 | None | gnomAD-4.0.0 | 2.29329E-05 | None | None | None | None | N | None | 4.00523E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.88207E-05 | 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 | 0.8638 | likely_pathogenic | 0.8966 | pathogenic | -1.635 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| F/C | 0.8059 | likely_pathogenic | 0.8545 | pathogenic | -1.351 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.548881362 | None | None | N |
| F/D | 0.9956 | likely_pathogenic | 0.9962 | pathogenic | -2.811 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| F/E | 0.9917 | likely_pathogenic | 0.9928 | pathogenic | -2.569 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| F/G | 0.9706 | likely_pathogenic | 0.9779 | pathogenic | -2.075 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| F/H | 0.9637 | likely_pathogenic | 0.9679 | pathogenic | -1.792 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| F/I | 0.3883 | ambiguous | 0.4262 | ambiguous | -0.202 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.527984585 | None | None | N |
| F/K | 0.9915 | likely_pathogenic | 0.9928 | pathogenic | -1.851 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| F/L | 0.8183 | likely_pathogenic | 0.8564 | pathogenic | -0.202 | Destabilizing | 0.999 | D | 0.699 | prob.neutral | N | 0.396499314 | None | None | N |
| F/M | 0.6121 | likely_pathogenic | 0.6624 | pathogenic | -0.326 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| F/N | 0.9858 | likely_pathogenic | 0.9867 | pathogenic | -2.577 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| F/P | 0.9981 | likely_pathogenic | 0.9989 | pathogenic | -0.691 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| F/Q | 0.9842 | likely_pathogenic | 0.9866 | pathogenic | -2.203 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| F/R | 0.9767 | likely_pathogenic | 0.9806 | pathogenic | -2.129 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| F/S | 0.9222 | likely_pathogenic | 0.9339 | pathogenic | -2.9 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | D | 0.549134852 | None | None | N |
| F/T | 0.9106 | likely_pathogenic | 0.9308 | pathogenic | -2.523 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| F/V | 0.4011 | ambiguous | 0.452 | ambiguous | -0.691 | Destabilizing | 1.0 | D | 0.761 | deleterious | N | 0.513126925 | None | None | N |
| F/W | 0.7578 | likely_pathogenic | 0.7949 | pathogenic | -0.073 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| F/Y | 0.4476 | ambiguous | 0.489 | ambiguous | -0.372 | Destabilizing | 0.999 | D | 0.64 | neutral | N | 0.496543607 | 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.