Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29797 | 89614;89615;89616 | chr2:178553616;178553615;178553614 | chr2:179418343;179418342;179418341 |
| N2AB | 28156 | 84691;84692;84693 | chr2:178553616;178553615;178553614 | chr2:179418343;179418342;179418341 |
| N2A | 27229 | 81910;81911;81912 | chr2:178553616;178553615;178553614 | chr2:179418343;179418342;179418341 |
| N2B | 20732 | 62419;62420;62421 | chr2:178553616;178553615;178553614 | chr2:179418343;179418342;179418341 |
| Novex-1 | 20857 | 62794;62795;62796 | chr2:178553616;178553615;178553614 | chr2:179418343;179418342;179418341 |
| Novex-2 | 20924 | 62995;62996;62997 | chr2:178553616;178553615;178553614 | chr2:179418343;179418342;179418341 |
| 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/A | None | None | 0.543 | N | 0.334 | 0.282 | 0.574298552393 | gnomAD-4.0.0 | 1.59115E-06 | None | None | None | None | N | None | 0 | 2.28634E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/E | rs1431345773  |
-1.306 | 0.998 | D | 0.807 | 0.652 | 0.840856541103 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/E | rs1431345773 |
-1.306 | 0.998 | D | 0.807 | 0.652 | 0.840856541103 | gnomAD-4.0.0 | 1.59115E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43283E-05 | 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 | 0.3781 | ambiguous | 0.3801 | ambiguous | -1.447 | Destabilizing | 0.543 | D | 0.334 | neutral | N | 0.47832836 | None | None | N |
| V/C | 0.845 | likely_pathogenic | 0.8664 | pathogenic | -1.129 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| V/D | 0.9633 | likely_pathogenic | 0.9648 | pathogenic | -1.602 | Destabilizing | 0.999 | D | 0.831 | deleterious | None | None | None | None | N |
| V/E | 0.9049 | likely_pathogenic | 0.9122 | pathogenic | -1.331 | Destabilizing | 0.998 | D | 0.807 | deleterious | D | 0.537516197 | None | None | N |
| V/F | 0.4685 | ambiguous | 0.4679 | ambiguous | -0.798 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| V/G | 0.748 | likely_pathogenic | 0.7452 | pathogenic | -2.01 | Highly Destabilizing | 0.997 | D | 0.777 | deleterious | D | 0.537516197 | None | None | N |
| V/H | 0.9548 | likely_pathogenic | 0.9617 | pathogenic | -1.874 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| V/I | 0.0963 | likely_benign | 0.0966 | benign | 0.136 | Stabilizing | 0.987 | D | 0.548 | neutral | N | 0.498954465 | None | None | N |
| V/K | 0.9162 | likely_pathogenic | 0.9271 | pathogenic | -1.044 | Destabilizing | 0.999 | D | 0.811 | deleterious | None | None | None | None | N |
| V/L | 0.36 | ambiguous | 0.3697 | ambiguous | 0.136 | Stabilizing | 0.973 | D | 0.658 | neutral | N | 0.505184218 | None | None | N |
| V/M | 0.3875 | ambiguous | 0.3845 | ambiguous | -0.128 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| V/N | 0.9219 | likely_pathogenic | 0.9335 | pathogenic | -1.506 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| V/P | 0.9616 | likely_pathogenic | 0.9606 | pathogenic | -0.365 | Destabilizing | 0.999 | D | 0.815 | deleterious | None | None | None | None | N |
| V/Q | 0.8905 | likely_pathogenic | 0.9063 | pathogenic | -1.168 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| V/R | 0.8848 | likely_pathogenic | 0.8998 | pathogenic | -1.291 | Destabilizing | 0.999 | D | 0.827 | deleterious | None | None | None | None | N |
| V/S | 0.742 | likely_pathogenic | 0.7679 | pathogenic | -2.168 | Highly Destabilizing | 0.995 | D | 0.78 | deleterious | None | None | None | None | N |
| V/T | 0.6332 | likely_pathogenic | 0.6622 | pathogenic | -1.716 | Destabilizing | 0.992 | D | 0.637 | neutral | None | None | None | None | N |
| V/W | 0.9797 | likely_pathogenic | 0.9805 | pathogenic | -1.237 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| V/Y | 0.889 | likely_pathogenic | 0.8952 | pathogenic | -0.791 | Destabilizing | 1.0 | D | 0.757 | 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.