Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17441 | 52546;52547;52548 | chr2:178608690;178608689;178608688 | chr2:179473417;179473416;179473415 |
| N2AB | 15800 | 47623;47624;47625 | chr2:178608690;178608689;178608688 | chr2:179473417;179473416;179473415 |
| N2A | 14873 | 44842;44843;44844 | chr2:178608690;178608689;178608688 | chr2:179473417;179473416;179473415 |
| N2B | 8376 | 25351;25352;25353 | chr2:178608690;178608689;178608688 | chr2:179473417;179473416;179473415 |
| Novex-1 | 8501 | 25726;25727;25728 | chr2:178608690;178608689;178608688 | chr2:179473417;179473416;179473415 |
| Novex-2 | 8568 | 25927;25928;25929 | chr2:178608690;178608689;178608688 | chr2:179473417;179473416;179473415 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/H | None | None | 1.0 | D | 0.825 | 0.878 | 0.750939832703 | gnomAD-4.0.0 | 1.59462E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86328E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9977 | likely_pathogenic | 0.9979 | pathogenic | -3.487 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| Y/C | 0.9875 | likely_pathogenic | 0.988 | pathogenic | -2.113 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.658541686 | None | None | N |
| Y/D | 0.9937 | likely_pathogenic | 0.9945 | pathogenic | -3.842 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.674561047 | None | None | N |
| Y/E | 0.9987 | likely_pathogenic | 0.9988 | pathogenic | -3.638 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| Y/F | 0.5563 | ambiguous | 0.5615 | ambiguous | -1.343 | Destabilizing | 0.999 | D | 0.769 | deleterious | D | 0.627704866 | None | None | N |
| Y/G | 0.9912 | likely_pathogenic | 0.9922 | pathogenic | -3.899 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| Y/H | 0.9893 | likely_pathogenic | 0.9908 | pathogenic | -2.438 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.674561047 | None | None | N |
| Y/I | 0.9734 | likely_pathogenic | 0.9708 | pathogenic | -2.101 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| Y/K | 0.999 | likely_pathogenic | 0.999 | pathogenic | -2.561 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| Y/L | 0.9564 | likely_pathogenic | 0.9562 | pathogenic | -2.101 | Highly Destabilizing | 0.999 | D | 0.8 | deleterious | None | None | None | None | N |
| Y/M | 0.9869 | likely_pathogenic | 0.9865 | pathogenic | -1.808 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| Y/N | 0.9714 | likely_pathogenic | 0.9743 | pathogenic | -3.352 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.674359243 | None | None | N |
| Y/P | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -2.581 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| Y/Q | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -3.113 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| Y/R | 0.998 | likely_pathogenic | 0.9981 | pathogenic | -2.227 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| Y/S | 0.992 | likely_pathogenic | 0.9927 | pathogenic | -3.689 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.674561047 | None | None | N |
| Y/T | 0.9959 | likely_pathogenic | 0.9961 | pathogenic | -3.37 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| Y/V | 0.9619 | likely_pathogenic | 0.9607 | pathogenic | -2.581 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| Y/W | 0.9509 | likely_pathogenic | 0.9517 | pathogenic | -0.639 | Destabilizing | 1.0 | D | 0.798 | 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.