Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24651 | 74176;74177;74178 | chr2:178572181;178572180;178572179 | chr2:179436908;179436907;179436906 |
| N2AB | 23010 | 69253;69254;69255 | chr2:178572181;178572180;178572179 | chr2:179436908;179436907;179436906 |
| N2A | 22083 | 66472;66473;66474 | chr2:178572181;178572180;178572179 | chr2:179436908;179436907;179436906 |
| N2B | 15586 | 46981;46982;46983 | chr2:178572181;178572180;178572179 | chr2:179436908;179436907;179436906 |
| Novex-1 | 15711 | 47356;47357;47358 | chr2:178572181;178572180;178572179 | chr2:179436908;179436907;179436906 |
| Novex-2 | 15778 | 47557;47558;47559 | chr2:178572181;178572180;178572179 | chr2:179436908;179436907;179436906 |
| 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 | 0.803 | 0.794 | 0.7336617316 | gnomAD-4.0.0 | 1.59209E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85935E-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 | 0.9988 | likely_pathogenic | 0.9984 | pathogenic | -3.396 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| Y/C | 0.9615 | likely_pathogenic | 0.9467 | pathogenic | -1.778 | Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.643993931 | None | None | N |
| Y/D | 0.9982 | likely_pathogenic | 0.9974 | pathogenic | -3.682 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | D | 0.660215097 | None | None | N |
| Y/E | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -3.465 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| Y/F | 0.4324 | ambiguous | 0.3974 | ambiguous | -1.284 | Destabilizing | 0.999 | D | 0.647 | neutral | D | 0.545143587 | None | None | N |
| Y/G | 0.9951 | likely_pathogenic | 0.9937 | pathogenic | -3.805 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| Y/H | 0.9922 | likely_pathogenic | 0.9896 | pathogenic | -2.433 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.634071572 | None | None | N |
| Y/I | 0.9897 | likely_pathogenic | 0.9852 | pathogenic | -2.016 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| Y/K | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -2.3 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| Y/L | 0.9763 | likely_pathogenic | 0.966 | pathogenic | -2.016 | Highly Destabilizing | 0.998 | D | 0.771 | deleterious | None | None | None | None | N |
| Y/M | 0.993 | likely_pathogenic | 0.9897 | pathogenic | -1.728 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| Y/N | 0.9851 | likely_pathogenic | 0.9782 | pathogenic | -3.079 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.660013292 | None | None | N |
| Y/P | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -2.494 | Highly Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | N |
| Y/Q | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -2.826 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| Y/R | 0.9981 | likely_pathogenic | 0.9974 | pathogenic | -2.077 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| Y/S | 0.9938 | likely_pathogenic | 0.991 | pathogenic | -3.4 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | D | 0.660013292 | None | None | N |
| Y/T | 0.9983 | likely_pathogenic | 0.9974 | pathogenic | -3.064 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| Y/V | 0.9814 | likely_pathogenic | 0.9739 | pathogenic | -2.494 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| Y/W | 0.9271 | likely_pathogenic | 0.9085 | pathogenic | -0.488 | Destabilizing | 1.0 | D | 0.787 | 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.