Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25243 | 75952;75953;75954 | chr2:178570405;178570404;178570403 | chr2:179435132;179435131;179435130 |
| N2AB | 23602 | 71029;71030;71031 | chr2:178570405;178570404;178570403 | chr2:179435132;179435131;179435130 |
| N2A | 22675 | 68248;68249;68250 | chr2:178570405;178570404;178570403 | chr2:179435132;179435131;179435130 |
| N2B | 16178 | 48757;48758;48759 | chr2:178570405;178570404;178570403 | chr2:179435132;179435131;179435130 |
| Novex-1 | 16303 | 49132;49133;49134 | chr2:178570405;178570404;178570403 | chr2:179435132;179435131;179435130 |
| Novex-2 | 16370 | 49333;49334;49335 | chr2:178570405;178570404;178570403 | chr2:179435132;179435131;179435130 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | None | -2.335 | 0.999 | N | 0.71 | 0.54 | 0.434272847907 | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.12625E-04 | None | 0 | None | 0 | 0 | 0 |
| E/K | None | -2.335 | 0.999 | N | 0.71 | 0.54 | 0.434272847907 | gnomAD-4.0.0 | 1.36895E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.05842E-05 | None | 0 | 0 | 0 | 0 | 0 |
| E/Q | rs1114167338  |
-2.008 | 1.0 | N | 0.77 | 0.335 | 0.227934060464 | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 5.63E-05 | None | 0 | None | 0 | 0 | 0 |
| E/Q | rs1114167338 |
-2.008 | 1.0 | N | 0.77 | 0.335 | 0.227934060464 | gnomAD-4.0.0 | 6.84475E-07 | None | None | None | None | N | None | 0 | 2.23764E-05 | None | 0 | 0 | None | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.763 | likely_pathogenic | 0.7914 | pathogenic | -1.868 | Destabilizing | 0.999 | D | 0.704 | prob.neutral | D | 0.537001856 | None | None | N |
| E/C | 0.9839 | likely_pathogenic | 0.9863 | pathogenic | -0.946 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| E/D | 0.856 | likely_pathogenic | 0.8612 | pathogenic | -1.753 | Destabilizing | 0.999 | D | 0.664 | neutral | N | 0.48969053 | None | None | N |
| E/F | 0.9897 | likely_pathogenic | 0.9928 | pathogenic | -1.521 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| E/G | 0.8842 | likely_pathogenic | 0.9023 | pathogenic | -2.249 | Highly Destabilizing | 1.0 | D | 0.759 | deleterious | D | 0.532028333 | None | None | N |
| E/H | 0.9629 | likely_pathogenic | 0.9718 | pathogenic | -1.358 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| E/I | 0.9719 | likely_pathogenic | 0.9727 | pathogenic | -0.76 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| E/K | 0.9116 | likely_pathogenic | 0.9303 | pathogenic | -1.77 | Destabilizing | 0.999 | D | 0.71 | prob.delet. | N | 0.514996807 | None | None | N |
| E/L | 0.952 | likely_pathogenic | 0.9606 | pathogenic | -0.76 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| E/M | 0.9309 | likely_pathogenic | 0.9426 | pathogenic | 0.014 | Stabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| E/N | 0.9538 | likely_pathogenic | 0.962 | pathogenic | -1.932 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| E/P | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.118 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| E/Q | 0.3747 | ambiguous | 0.4153 | ambiguous | -1.639 | Destabilizing | 1.0 | D | 0.77 | deleterious | N | 0.500106472 | None | None | N |
| E/R | 0.9428 | likely_pathogenic | 0.9574 | pathogenic | -1.554 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| E/S | 0.7563 | likely_pathogenic | 0.7972 | pathogenic | -2.615 | Highly Destabilizing | 0.999 | D | 0.763 | deleterious | None | None | None | None | N |
| E/T | 0.9163 | likely_pathogenic | 0.9268 | pathogenic | -2.249 | Highly Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| E/V | 0.9176 | likely_pathogenic | 0.9212 | pathogenic | -1.118 | Destabilizing | 1.0 | D | 0.76 | deleterious | N | 0.51965807 | None | None | N |
| E/W | 0.9969 | likely_pathogenic | 0.9977 | pathogenic | -1.577 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| E/Y | 0.985 | likely_pathogenic | 0.9894 | pathogenic | -1.348 | Destabilizing | 1.0 | D | 0.786 | 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.