Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5848 | 17767;17768;17769 | chr2:178731123;178731122;178731121 | chr2:179595850;179595849;179595848 |
| N2AB | 5531 | 16816;16817;16818 | chr2:178731123;178731122;178731121 | chr2:179595850;179595849;179595848 |
| N2A | 4604 | 14035;14036;14037 | chr2:178731123;178731122;178731121 | chr2:179595850;179595849;179595848 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 1.0 | D | 0.777 | 0.665 | 0.5711029235 | gnomAD-4.0.0 | 6.84237E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.87259E-05 | 0 | 0 | 0 | 0 |
| G/E | rs185962498  |
-0.23 | 1.0 | D | 0.811 | 0.621 | None | gnomAD-2.1.1 | 1.92689E-04 | None | None | None | None | N | None | 8.26E-05 | 8.49E-05 | None | 0 | 2.204E-03 | None | 6.54E-05 | None | 0 | 0 | 5.61482E-04 |
| G/E | rs185962498 |
-0.23 | 1.0 | D | 0.811 | 0.621 | None | gnomAD-3.1.2 | 2.82954E-04 | None | None | None | None | N | None | 4.83E-05 | 1.63977E-03 | 0 | 0 | 1.93648E-03 | None | 0 | 0 | 1.47E-05 | 0 | 2.39464E-03 |
| G/E | rs185962498 |
-0.23 | 1.0 | D | 0.811 | 0.621 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 2E-03 | 0 | None | None | None | 0 | None |
| G/E | rs185962498 |
-0.23 | 1.0 | D | 0.811 | 0.621 | None | gnomAD-4.0.0 | 1.53697E-04 | None | None | None | None | N | None | 4.00171E-05 | 4.50135E-04 | None | 0 | 1.15963E-03 | None | 0 | 0 | 4.23843E-06 | 1.09801E-05 | 2.56106E-03 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6835 | likely_pathogenic | 0.6741 | pathogenic | -0.399 | Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.560214647 | None | None | N |
| G/C | 0.9577 | likely_pathogenic | 0.9582 | pathogenic | -0.8 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| G/D | 0.9822 | likely_pathogenic | 0.9862 | pathogenic | -0.718 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/E | 0.9878 | likely_pathogenic | 0.9898 | pathogenic | -0.871 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.562143404 | None | None | N |
| G/F | 0.9953 | likely_pathogenic | 0.9943 | pathogenic | -1.098 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| G/H | 0.9953 | likely_pathogenic | 0.9958 | pathogenic | -0.843 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| G/I | 0.9838 | likely_pathogenic | 0.9849 | pathogenic | -0.427 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| G/K | 0.9937 | likely_pathogenic | 0.9945 | pathogenic | -0.975 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/L | 0.9897 | likely_pathogenic | 0.9886 | pathogenic | -0.427 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| G/M | 0.9941 | likely_pathogenic | 0.9939 | pathogenic | -0.387 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| G/N | 0.9878 | likely_pathogenic | 0.9886 | pathogenic | -0.536 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/P | 0.9967 | likely_pathogenic | 0.9962 | pathogenic | -0.382 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/Q | 0.9893 | likely_pathogenic | 0.9908 | pathogenic | -0.818 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| G/R | 0.9766 | likely_pathogenic | 0.9803 | pathogenic | -0.559 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.58922451 | None | None | N |
| G/S | 0.7417 | likely_pathogenic | 0.7559 | pathogenic | -0.676 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| G/T | 0.9497 | likely_pathogenic | 0.9475 | pathogenic | -0.759 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| G/V | 0.956 | likely_pathogenic | 0.9624 | pathogenic | -0.382 | Destabilizing | 1.0 | D | 0.782 | deleterious | D | 0.595957285 | None | None | N |
| G/W | 0.9911 | likely_pathogenic | 0.9916 | pathogenic | -1.301 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | D | 0.621899005 | None | None | N |
| G/Y | 0.9947 | likely_pathogenic | 0.9945 | pathogenic | -0.935 | Destabilizing | 1.0 | D | 0.748 | 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.