Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2240 | 6943;6944;6945 | chr2:178774993;178774992;178774991 | chr2:179639720;179639719;179639718 |
| N2AB | 2240 | 6943;6944;6945 | chr2:178774993;178774992;178774991 | chr2:179639720;179639719;179639718 |
| N2A | 2240 | 6943;6944;6945 | chr2:178774993;178774992;178774991 | chr2:179639720;179639719;179639718 |
| N2B | 2194 | 6805;6806;6807 | chr2:178774993;178774992;178774991 | chr2:179639720;179639719;179639718 |
| Novex-1 | 2194 | 6805;6806;6807 | chr2:178774993;178774992;178774991 | chr2:179639720;179639719;179639718 |
| Novex-2 | 2194 | 6805;6806;6807 | chr2:178774993;178774992;178774991 | chr2:179639720;179639719;179639718 |
| Novex-3 | 2240 | 6943;6944;6945 | chr2:178774993;178774992;178774991 | chr2:179639720;179639719;179639718 |
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 | rs149404931  |
-0.512 | 1.0 | D | 0.597 | 0.545 | 0.516827169674 | gnomAD-2.1.1 | 1.42E-05 | None | None | None | None | N | None | 1.60205E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/E | rs149404931 |
-0.512 | 1.0 | D | 0.597 | 0.545 | 0.516827169674 | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 1.44669E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/E | rs149404931 |
-0.512 | 1.0 | D | 0.597 | 0.545 | 0.516827169674 | gnomAD-4.0.0 | 3.94151E-05 | None | None | None | None | N | None | 1.44669E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/G | rs745532581 |
-0.056 | 1.0 | D | 0.781 | 0.879 | 0.70718994021 | gnomAD-2.1.1 | 7.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.00462E-04 | None | 0 | None | 0 | 0 | 0 |
| D/G | rs745532581 |
-0.056 | 1.0 | D | 0.781 | 0.879 | 0.70718994021 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92753E-04 | None | 0 | 0 | 0 | 0 | 0 |
| D/G | rs745532581 |
-0.056 | 1.0 | D | 0.781 | 0.879 | 0.70718994021 | gnomAD-4.0.0 | 1.85904E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.69225E-05 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs769846959 |
-0.533 | 1.0 | D | 0.768 | 0.706 | 0.675068926283 | gnomAD-2.1.1 | 2.83E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 3.18725E-04 | 0 | 0 |
| D/N | rs769846959 |
-0.533 | 1.0 | D | 0.768 | 0.706 | 0.675068926283 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 1.88288E-04 | 0 | 0 | 0 | 0 |
| D/N | rs769846959 |
-0.533 | 1.0 | D | 0.768 | 0.706 | 0.675068926283 | gnomAD-4.0.0 | 2.43354E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.98086E-04 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.7591 | likely_pathogenic | 0.7716 | pathogenic | 0.596 | Stabilizing | 1.0 | D | 0.86 | deleterious | D | 0.780678077 | None | None | N |
| D/C | 0.9301 | likely_pathogenic | 0.9347 | pathogenic | 0.454 | Stabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| D/E | 0.747 | likely_pathogenic | 0.7629 | pathogenic | -0.673 | Destabilizing | 1.0 | D | 0.597 | neutral | D | 0.781820652 | None | None | N |
| D/F | 0.9319 | likely_pathogenic | 0.936 | pathogenic | 1.067 | Stabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| D/G | 0.8513 | likely_pathogenic | 0.8597 | pathogenic | 0.101 | Stabilizing | 1.0 | D | 0.781 | deleterious | D | 0.779914738 | None | None | N |
| D/H | 0.694 | likely_pathogenic | 0.7027 | pathogenic | 0.573 | Stabilizing | 1.0 | D | 0.837 | deleterious | D | 0.686366264 | None | None | N |
| D/I | 0.9157 | likely_pathogenic | 0.923 | pathogenic | 1.93 | Stabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| D/K | 0.9373 | likely_pathogenic | 0.9418 | pathogenic | 0.268 | Stabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| D/L | 0.9061 | likely_pathogenic | 0.9102 | pathogenic | 1.93 | Stabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| D/M | 0.9506 | likely_pathogenic | 0.953 | pathogenic | 2.351 | Highly Stabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| D/N | 0.455 | ambiguous | 0.4605 | ambiguous | -0.574 | Destabilizing | 1.0 | D | 0.768 | deleterious | D | 0.679964012 | None | None | N |
| D/P | 0.9907 | likely_pathogenic | 0.9916 | pathogenic | 1.517 | Stabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| D/Q | 0.8912 | likely_pathogenic | 0.8983 | pathogenic | -0.144 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| D/R | 0.9527 | likely_pathogenic | 0.9576 | pathogenic | 0.082 | Stabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| D/S | 0.6017 | likely_pathogenic | 0.6057 | pathogenic | -0.87 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| D/T | 0.8557 | likely_pathogenic | 0.8593 | pathogenic | -0.403 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| D/V | 0.8026 | likely_pathogenic | 0.8164 | pathogenic | 1.517 | Stabilizing | 1.0 | D | 0.874 | deleterious | D | 0.779891214 | None | None | N |
| D/W | 0.9916 | likely_pathogenic | 0.9925 | pathogenic | 0.94 | Stabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| D/Y | 0.6983 | likely_pathogenic | 0.718 | pathogenic | 1.302 | Stabilizing | 1.0 | D | 0.88 | deleterious | D | 0.779984149 | 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.