Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16052 | 48379;48380;48381 | chr2:178616735;178616734;178616733 | chr2:179481462;179481461;179481460 |
| N2AB | 14411 | 43456;43457;43458 | chr2:178616735;178616734;178616733 | chr2:179481462;179481461;179481460 |
| N2A | 13484 | 40675;40676;40677 | chr2:178616735;178616734;178616733 | chr2:179481462;179481461;179481460 |
| N2B | 6987 | 21184;21185;21186 | chr2:178616735;178616734;178616733 | chr2:179481462;179481461;179481460 |
| Novex-1 | 7112 | 21559;21560;21561 | chr2:178616735;178616734;178616733 | chr2:179481462;179481461;179481460 |
| Novex-2 | 7179 | 21760;21761;21762 | chr2:178616735;178616734;178616733 | chr2:179481462;179481461;179481460 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/E | rs1191348634  |
-0.234 | 1.0 | D | 0.785 | 0.851 | 0.919824686997 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| V/E | rs1191348634 |
-0.234 | 1.0 | D | 0.785 | 0.851 | 0.919824686997 | gnomAD-4.0.0 | 4.80129E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25001E-06 | 0 | 0 |
| V/I | rs768343058 |
-0.125 | 0.997 | D | 0.73 | 0.524 | 0.886655912073 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs768343058 |
-0.125 | 0.997 | D | 0.73 | 0.524 | 0.886655912073 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62501E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.9128 | likely_pathogenic | 0.9334 | pathogenic | -2.207 | Highly Destabilizing | 0.999 | D | 0.772 | deleterious | D | 0.710763321 | None | None | I |
| V/C | 0.9758 | likely_pathogenic | 0.9797 | pathogenic | -1.931 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| V/D | 0.9964 | likely_pathogenic | 0.9972 | pathogenic | -2.799 | Highly Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| V/E | 0.9925 | likely_pathogenic | 0.9938 | pathogenic | -2.684 | Highly Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.710070348 | None | None | I |
| V/F | 0.9503 | likely_pathogenic | 0.9646 | pathogenic | -1.421 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| V/G | 0.9507 | likely_pathogenic | 0.9587 | pathogenic | -2.622 | Highly Destabilizing | 1.0 | D | 0.756 | deleterious | D | 0.710070348 | None | None | I |
| V/H | 0.9982 | likely_pathogenic | 0.9986 | pathogenic | -2.039 | Highly Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| V/I | 0.1489 | likely_benign | 0.1739 | benign | -1.09 | Destabilizing | 0.997 | D | 0.73 | prob.delet. | D | 0.666493033 | None | None | I |
| V/K | 0.9941 | likely_pathogenic | 0.9953 | pathogenic | -1.824 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| V/L | 0.8648 | likely_pathogenic | 0.8999 | pathogenic | -1.09 | Destabilizing | 0.997 | D | 0.773 | deleterious | D | 0.713342059 | None | None | I |
| V/M | 0.8752 | likely_pathogenic | 0.9091 | pathogenic | -1.19 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| V/N | 0.987 | likely_pathogenic | 0.9895 | pathogenic | -1.95 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| V/P | 0.9851 | likely_pathogenic | 0.987 | pathogenic | -1.435 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| V/Q | 0.9935 | likely_pathogenic | 0.9946 | pathogenic | -2.006 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| V/R | 0.9877 | likely_pathogenic | 0.9899 | pathogenic | -1.382 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| V/S | 0.9686 | likely_pathogenic | 0.9756 | pathogenic | -2.514 | Highly Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| V/T | 0.9101 | likely_pathogenic | 0.9246 | pathogenic | -2.285 | Highly Destabilizing | 0.999 | D | 0.819 | deleterious | None | None | None | None | I |
| V/W | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -1.729 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | I |
| V/Y | 0.9955 | likely_pathogenic | 0.9967 | pathogenic | -1.46 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | I |
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.