Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5327 | 16204;16205;16206 | chr2:178733314;178733313;178733312 | chr2:179598041;179598040;179598039 |
| N2AB | 5010 | 15253;15254;15255 | chr2:178733314;178733313;178733312 | chr2:179598041;179598040;179598039 |
| N2A | 4083 | 12472;12473;12474 | chr2:178733314;178733313;178733312 | chr2:179598041;179598040;179598039 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs1278975928  |
-0.492 | 1.0 | D | 0.585 | 0.484 | 0.315314060047 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/E | rs1278975928 |
-0.492 | 1.0 | D | 0.585 | 0.484 | 0.315314060047 | gnomAD-4.0.0 | 4.10546E-06 | None | None | None | None | N | None | 2.98811E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59798E-06 | 0 | 1.65667E-05 |
| D/H | None | None | 1.0 | D | 0.833 | 0.669 | 0.700541569318 | gnomAD-4.0.0 | 1.36849E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.799E-06 | 0 | 0 |
| D/N | rs868056944 |
-0.669 | 1.0 | D | 0.769 | 0.617 | 0.724787515888 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 0 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 7.83E-06 | 0 |
| D/N | rs868056944 |
-0.669 | 1.0 | D | 0.769 | 0.617 | 0.724787515888 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 2.07039E-04 | 0 |
| D/N | rs868056944 |
-0.669 | 1.0 | D | 0.769 | 0.617 | 0.724787515888 | gnomAD-4.0.0 | 1.05352E-05 | None | None | None | None | N | None | 1.33472E-05 | 1.667E-05 | None | 0 | 2.22856E-05 | None | 0 | 0 | 9.32398E-06 | 2.19626E-05 | 1.60123E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9636 | likely_pathogenic | 0.9543 | pathogenic | 1.365 | Stabilizing | 1.0 | D | 0.838 | deleterious | D | 0.646194136 | None | None | N |
| D/C | 0.9835 | likely_pathogenic | 0.9758 | pathogenic | 1.051 | Stabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| D/E | 0.884 | likely_pathogenic | 0.8597 | pathogenic | -0.194 | Destabilizing | 1.0 | D | 0.585 | neutral | D | 0.610158613 | None | None | N |
| D/F | 0.9907 | likely_pathogenic | 0.9889 | pathogenic | 1.825 | Stabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| D/G | 0.9667 | likely_pathogenic | 0.9569 | pathogenic | 0.867 | Stabilizing | 1.0 | D | 0.778 | deleterious | D | 0.646395941 | None | None | N |
| D/H | 0.888 | likely_pathogenic | 0.8763 | pathogenic | 1.352 | Stabilizing | 1.0 | D | 0.833 | deleterious | D | 0.596914509 | None | None | N |
| D/I | 0.9874 | likely_pathogenic | 0.9852 | pathogenic | 2.699 | Highly Stabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| D/K | 0.988 | likely_pathogenic | 0.9866 | pathogenic | 0.88 | Stabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| D/L | 0.9821 | likely_pathogenic | 0.9787 | pathogenic | 2.699 | Highly Stabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| D/M | 0.9933 | likely_pathogenic | 0.9921 | pathogenic | 2.968 | Highly Stabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| D/N | 0.7225 | likely_pathogenic | 0.6678 | pathogenic | 0.079 | Stabilizing | 1.0 | D | 0.769 | deleterious | D | 0.628560341 | None | None | N |
| D/P | 0.9981 | likely_pathogenic | 0.9983 | pathogenic | 2.287 | Highly Stabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| D/Q | 0.9684 | likely_pathogenic | 0.9644 | pathogenic | 0.551 | Stabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| D/R | 0.9883 | likely_pathogenic | 0.9872 | pathogenic | 0.537 | Stabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| D/S | 0.8967 | likely_pathogenic | 0.8617 | pathogenic | -0.253 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| D/T | 0.9804 | likely_pathogenic | 0.9746 | pathogenic | 0.225 | Stabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| D/V | 0.9703 | likely_pathogenic | 0.9644 | pathogenic | 2.287 | Highly Stabilizing | 1.0 | D | 0.841 | deleterious | D | 0.663051075 | None | None | N |
| D/W | 0.998 | likely_pathogenic | 0.9978 | pathogenic | 1.559 | Stabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| D/Y | 0.9437 | likely_pathogenic | 0.9321 | pathogenic | 2.062 | Highly Stabilizing | 1.0 | D | 0.849 | deleterious | D | 0.662849271 | 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.