Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16838 | 50737;50738;50739 | chr2:178611797;178611796;178611795 | chr2:179476524;179476523;179476522 |
| N2AB | 15197 | 45814;45815;45816 | chr2:178611797;178611796;178611795 | chr2:179476524;179476523;179476522 |
| N2A | 14270 | 43033;43034;43035 | chr2:178611797;178611796;178611795 | chr2:179476524;179476523;179476522 |
| N2B | 7773 | 23542;23543;23544 | chr2:178611797;178611796;178611795 | chr2:179476524;179476523;179476522 |
| Novex-1 | 7898 | 23917;23918;23919 | chr2:178611797;178611796;178611795 | chr2:179476524;179476523;179476522 |
| Novex-2 | 7965 | 24118;24119;24120 | chr2:178611797;178611796;178611795 | chr2:179476524;179476523;179476522 |
| 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/G | rs781528949  |
-1.16 | 0.002 | D | 0.523 | 0.33 | 0.238705975628 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| S/G | rs781528949 |
-1.16 | 0.002 | D | 0.523 | 0.33 | 0.238705975628 | gnomAD-4.0.0 | 3.18678E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.42014E-04 | 0 | 1.43542E-05 | 0 |
| S/N | rs755391418 |
None | 0.645 | D | 0.855 | 0.533 | 0.442567846599 | gnomAD-4.0.0 | 6.84615E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65782E-05 |
| S/T | rs755391418 |
-0.888 | 0.645 | D | 0.828 | 0.526 | 0.397540356873 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| S/T | rs755391418 |
-0.888 | 0.645 | D | 0.828 | 0.526 | 0.397540356873 | 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 |
| S/T | rs755391418 |
-0.888 | 0.645 | D | 0.828 | 0.526 | 0.397540356873 | gnomAD-4.0.0 | 4.34051E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.93594E-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 | 0.3466 | ambiguous | 0.3871 | ambiguous | -0.556 | Destabilizing | 0.332 | N | 0.775 | deleterious | None | None | None | None | N |
| S/C | 0.4586 | ambiguous | 0.4797 | ambiguous | -0.577 | Destabilizing | 0.993 | D | 0.829 | deleterious | D | 0.664270662 | None | None | N |
| S/D | 0.9876 | likely_pathogenic | 0.9928 | pathogenic | -1.16 | Destabilizing | 0.707 | D | 0.847 | deleterious | None | None | None | None | N |
| S/E | 0.991 | likely_pathogenic | 0.9951 | pathogenic | -1.07 | Destabilizing | 0.83 | D | 0.857 | deleterious | None | None | None | None | N |
| S/F | 0.9914 | likely_pathogenic | 0.9931 | pathogenic | -0.307 | Destabilizing | 0.981 | D | 0.902 | deleterious | None | None | None | None | N |
| S/G | 0.4907 | ambiguous | 0.5797 | pathogenic | -0.895 | Destabilizing | 0.002 | N | 0.523 | neutral | D | 0.673126221 | None | None | N |
| S/H | 0.9882 | likely_pathogenic | 0.9916 | pathogenic | -1.434 | Destabilizing | 0.995 | D | 0.833 | deleterious | None | None | None | None | N |
| S/I | 0.9589 | likely_pathogenic | 0.9748 | pathogenic | 0.266 | Stabilizing | 0.928 | D | 0.899 | deleterious | D | 0.691149621 | None | None | N |
| S/K | 0.9986 | likely_pathogenic | 0.9993 | pathogenic | -0.93 | Destabilizing | 0.707 | D | 0.853 | deleterious | None | None | None | None | N |
| S/L | 0.847 | likely_pathogenic | 0.8757 | pathogenic | 0.266 | Stabilizing | 0.945 | D | 0.872 | deleterious | None | None | None | None | N |
| S/M | 0.9209 | likely_pathogenic | 0.9485 | pathogenic | 0.277 | Stabilizing | 0.995 | D | 0.832 | deleterious | None | None | None | None | N |
| S/N | 0.9356 | likely_pathogenic | 0.9621 | pathogenic | -1.163 | Destabilizing | 0.645 | D | 0.855 | deleterious | D | 0.750296045 | None | None | N |
| S/P | 0.99 | likely_pathogenic | 0.9919 | pathogenic | 0.028 | Stabilizing | 0.945 | D | 0.859 | deleterious | None | None | None | None | N |
| S/Q | 0.9879 | likely_pathogenic | 0.993 | pathogenic | -1.091 | Destabilizing | 0.945 | D | 0.855 | deleterious | None | None | None | None | N |
| S/R | 0.9969 | likely_pathogenic | 0.9981 | pathogenic | -1.062 | Destabilizing | 0.928 | D | 0.853 | deleterious | D | 0.688883303 | None | None | N |
| S/T | 0.4058 | ambiguous | 0.4978 | ambiguous | -0.919 | Destabilizing | 0.645 | D | 0.828 | deleterious | D | 0.638794774 | None | None | N |
| S/V | 0.905 | likely_pathogenic | 0.9387 | pathogenic | 0.028 | Stabilizing | 0.945 | D | 0.889 | deleterious | None | None | None | None | N |
| S/W | 0.993 | likely_pathogenic | 0.9947 | pathogenic | -0.511 | Destabilizing | 0.995 | D | 0.869 | deleterious | None | None | None | None | N |
| S/Y | 0.9886 | likely_pathogenic | 0.9921 | pathogenic | -0.175 | Destabilizing | 0.981 | D | 0.901 | 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.