Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31495 | 94708;94709;94710 | chr2:178547042;178547041;178547040 | chr2:179411769;179411768;179411767 |
| N2AB | 29854 | 89785;89786;89787 | chr2:178547042;178547041;178547040 | chr2:179411769;179411768;179411767 |
| N2A | 28927 | 87004;87005;87006 | chr2:178547042;178547041;178547040 | chr2:179411769;179411768;179411767 |
| N2B | 22430 | 67513;67514;67515 | chr2:178547042;178547041;178547040 | chr2:179411769;179411768;179411767 |
| Novex-1 | 22555 | 67888;67889;67890 | chr2:178547042;178547041;178547040 | chr2:179411769;179411768;179411767 |
| Novex-2 | 22622 | 68089;68090;68091 | chr2:178547042;178547041;178547040 | chr2:179411769;179411768;179411767 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs1329167679  |
None | 0.999 | D | 0.889 | 0.587 | 0.502254315933 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | rs1329167679 |
None | 0.999 | D | 0.889 | 0.587 | 0.502254315933 | gnomAD-4.0.0 | 2.47939E-06 | None | None | None | None | N | None | 2.66944E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69573E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.4928 | ambiguous | 0.526 | ambiguous | -0.865 | Destabilizing | 0.998 | D | 0.85 | deleterious | None | None | None | None | N |
| S/C | 0.6172 | likely_pathogenic | 0.6671 | pathogenic | -0.93 | Destabilizing | 1.0 | D | 0.886 | deleterious | D | 0.54615543 | None | None | N |
| S/D | 0.9973 | likely_pathogenic | 0.9967 | pathogenic | -1.792 | Destabilizing | 0.999 | D | 0.885 | deleterious | None | None | None | None | N |
| S/E | 0.9984 | likely_pathogenic | 0.9982 | pathogenic | -1.686 | Destabilizing | 0.999 | D | 0.885 | deleterious | None | None | None | None | N |
| S/F | 0.9979 | likely_pathogenic | 0.9977 | pathogenic | -0.722 | Destabilizing | 1.0 | D | 0.929 | deleterious | None | None | None | None | N |
| S/G | 0.4458 | ambiguous | 0.4424 | ambiguous | -1.175 | Destabilizing | 0.999 | D | 0.877 | deleterious | N | 0.521757298 | None | None | N |
| S/H | 0.9962 | likely_pathogenic | 0.9955 | pathogenic | -1.487 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| S/I | 0.9939 | likely_pathogenic | 0.9948 | pathogenic | -0.11 | Destabilizing | 1.0 | D | 0.92 | deleterious | D | 0.557004756 | None | None | N |
| S/K | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -0.885 | Destabilizing | 0.999 | D | 0.879 | deleterious | None | None | None | None | N |
| S/L | 0.9644 | likely_pathogenic | 0.967 | pathogenic | -0.11 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| S/M | 0.9809 | likely_pathogenic | 0.9823 | pathogenic | -0.072 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| S/N | 0.9776 | likely_pathogenic | 0.9752 | pathogenic | -1.31 | Destabilizing | 0.999 | D | 0.889 | deleterious | D | 0.556751267 | None | None | N |
| S/P | 0.9948 | likely_pathogenic | 0.9931 | pathogenic | -0.329 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| S/Q | 0.996 | likely_pathogenic | 0.9957 | pathogenic | -1.319 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| S/R | 0.999 | likely_pathogenic | 0.999 | pathogenic | -0.873 | Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.538051127 | None | None | N |
| S/T | 0.6692 | likely_pathogenic | 0.6497 | pathogenic | -1.049 | Destabilizing | 0.999 | D | 0.885 | deleterious | N | 0.51636202 | None | None | N |
| S/V | 0.9784 | likely_pathogenic | 0.9818 | pathogenic | -0.329 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| S/W | 0.9977 | likely_pathogenic | 0.9973 | pathogenic | -0.89 | Destabilizing | 1.0 | D | 0.924 | deleterious | None | None | None | None | N |
| S/Y | 0.9973 | likely_pathogenic | 0.997 | pathogenic | -0.533 | Destabilizing | 1.0 | D | 0.925 | 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.