Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1579 | 4960;4961;4962 | chr2:178777228;178777227;178777226 | chr2:179641955;179641954;179641953 |
| N2AB | 1579 | 4960;4961;4962 | chr2:178777228;178777227;178777226 | chr2:179641955;179641954;179641953 |
| N2A | 1579 | 4960;4961;4962 | chr2:178777228;178777227;178777226 | chr2:179641955;179641954;179641953 |
| N2B | 1533 | 4822;4823;4824 | chr2:178777228;178777227;178777226 | chr2:179641955;179641954;179641953 |
| Novex-1 | 1533 | 4822;4823;4824 | chr2:178777228;178777227;178777226 | chr2:179641955;179641954;179641953 |
| Novex-2 | 1533 | 4822;4823;4824 | chr2:178777228;178777227;178777226 | chr2:179641955;179641954;179641953 |
| Novex-3 | 1579 | 4960;4961;4962 | chr2:178777228;178777227;178777226 | chr2:179641955;179641954;179641953 |
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/V | rs2092328380  |
None | 1.0 | N | 0.619 | 0.365 | 0.412328234245 | gnomAD-4.0.0 | 2.05228E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99323E-07 | 0 | 3.31159E-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 | 0.8495 | likely_pathogenic | 0.8104 | pathogenic | -1.534 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| A/D | 0.9979 | likely_pathogenic | 0.9966 | pathogenic | -2.696 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.732159108 | None | None | N |
| A/E | 0.9952 | likely_pathogenic | 0.9936 | pathogenic | -2.542 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| A/F | 0.9797 | likely_pathogenic | 0.9762 | pathogenic | -0.875 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| A/G | 0.5742 | likely_pathogenic | 0.4865 | ambiguous | -1.816 | Destabilizing | 1.0 | D | 0.594 | neutral | D | 0.672100919 | None | None | N |
| A/H | 0.9978 | likely_pathogenic | 0.9966 | pathogenic | -1.943 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| A/I | 0.8669 | likely_pathogenic | 0.8613 | pathogenic | -0.302 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| A/K | 0.9989 | likely_pathogenic | 0.9984 | pathogenic | -1.431 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| A/L | 0.8743 | likely_pathogenic | 0.8471 | pathogenic | -0.302 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| A/M | 0.9301 | likely_pathogenic | 0.9128 | pathogenic | -0.6 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| A/N | 0.9941 | likely_pathogenic | 0.9908 | pathogenic | -1.67 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| A/P | 0.989 | likely_pathogenic | 0.9857 | pathogenic | -0.629 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.62393565 | None | None | N |
| A/Q | 0.9932 | likely_pathogenic | 0.9909 | pathogenic | -1.579 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| A/R | 0.9959 | likely_pathogenic | 0.9943 | pathogenic | -1.347 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| A/S | 0.4895 | ambiguous | 0.4087 | ambiguous | -2.054 | Highly Destabilizing | 1.0 | D | 0.602 | neutral | D | 0.622171914 | None | None | N |
| A/T | 0.7132 | likely_pathogenic | 0.6313 | pathogenic | -1.795 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | D | 0.628981213 | None | None | N |
| A/V | 0.5815 | likely_pathogenic | 0.5524 | ambiguous | -0.629 | Destabilizing | 1.0 | D | 0.619 | neutral | N | 0.47653243 | None | None | N |
| A/W | 0.9989 | likely_pathogenic | 0.9986 | pathogenic | -1.518 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| A/Y | 0.9938 | likely_pathogenic | 0.9922 | pathogenic | -1.074 | Destabilizing | 1.0 | D | 0.873 | 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.