Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27446 | 82561;82562;82563 | chr2:178563796;178563795;178563794 | chr2:179428523;179428522;179428521 |
| N2AB | 25805 | 77638;77639;77640 | chr2:178563796;178563795;178563794 | chr2:179428523;179428522;179428521 |
| N2A | 24878 | 74857;74858;74859 | chr2:178563796;178563795;178563794 | chr2:179428523;179428522;179428521 |
| N2B | 18381 | 55366;55367;55368 | chr2:178563796;178563795;178563794 | chr2:179428523;179428522;179428521 |
| Novex-1 | 18506 | 55741;55742;55743 | chr2:178563796;178563795;178563794 | chr2:179428523;179428522;179428521 |
| Novex-2 | 18573 | 55942;55943;55944 | chr2:178563796;178563795;178563794 | chr2:179428523;179428522;179428521 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs1200170296  |
-2.015 | 1.0 | D | 0.795 | 0.69 | 0.720357061662 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| A/T | rs1200170296 |
-2.015 | 1.0 | D | 0.795 | 0.69 | 0.720357061662 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | rs1200170296 |
-2.015 | 1.0 | D | 0.795 | 0.69 | 0.720357061662 | gnomAD-4.0.0 | 3.844E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.17975E-06 | 0 | 0 |
| A/V | rs780558473 |
-0.658 | 1.0 | D | 0.711 | 0.62 | 0.751612220608 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 8.9E-06 | 0 |
| A/V | rs780558473 |
-0.658 | 1.0 | D | 0.711 | 0.62 | 0.751612220608 | gnomAD-4.0.0 | 6.15804E-06 | None | None | None | None | N | None | 2.98793E-05 | 0 | None | 0 | 2.52118E-05 | None | 0 | 5.20833E-04 | 2.69845E-06 | 0 | 1.65667E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9237 | likely_pathogenic | 0.9251 | pathogenic | -1.793 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| A/D | 0.9954 | likely_pathogenic | 0.9951 | pathogenic | -2.805 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.649649835 | None | None | N |
| A/E | 0.9953 | likely_pathogenic | 0.9954 | pathogenic | -2.572 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/F | 0.9935 | likely_pathogenic | 0.9942 | pathogenic | -0.762 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| A/G | 0.205 | likely_benign | 0.1845 | benign | -2.334 | Highly Destabilizing | 1.0 | D | 0.621 | neutral | D | 0.561670151 | None | None | N |
| A/H | 0.9978 | likely_pathogenic | 0.9981 | pathogenic | -2.207 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| A/I | 0.9874 | likely_pathogenic | 0.9876 | pathogenic | -0.734 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| A/K | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -1.539 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| A/L | 0.9495 | likely_pathogenic | 0.9437 | pathogenic | -0.734 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| A/M | 0.9748 | likely_pathogenic | 0.9747 | pathogenic | -1.248 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| A/N | 0.99 | likely_pathogenic | 0.9903 | pathogenic | -1.991 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| A/P | 0.632 | likely_pathogenic | 0.7563 | pathogenic | -1.1 | Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.582181003 | None | None | N |
| A/Q | 0.9938 | likely_pathogenic | 0.9941 | pathogenic | -1.684 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| A/R | 0.996 | likely_pathogenic | 0.9964 | pathogenic | -1.621 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| A/S | 0.4593 | ambiguous | 0.4565 | ambiguous | -2.341 | Highly Destabilizing | 1.0 | D | 0.615 | neutral | D | 0.565708031 | None | None | N |
| A/T | 0.8801 | likely_pathogenic | 0.8765 | pathogenic | -2.006 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.61149447 | None | None | N |
| A/V | 0.9261 | likely_pathogenic | 0.9208 | pathogenic | -1.1 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | D | 0.615996679 | None | None | N |
| A/W | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -1.37 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| A/Y | 0.9964 | likely_pathogenic | 0.9969 | pathogenic | -1.134 | Destabilizing | 1.0 | D | 0.867 | 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.