Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22383 | 67372;67373;67374 | chr2:178580140;178580139;178580138 | chr2:179444867;179444866;179444865 |
| N2AB | 20742 | 62449;62450;62451 | chr2:178580140;178580139;178580138 | chr2:179444867;179444866;179444865 |
| N2A | 19815 | 59668;59669;59670 | chr2:178580140;178580139;178580138 | chr2:179444867;179444866;179444865 |
| N2B | 13318 | 40177;40178;40179 | chr2:178580140;178580139;178580138 | chr2:179444867;179444866;179444865 |
| Novex-1 | 13443 | 40552;40553;40554 | chr2:178580140;178580139;178580138 | chr2:179444867;179444866;179444865 |
| Novex-2 | 13510 | 40753;40754;40755 | chr2:178580140;178580139;178580138 | chr2:179444867;179444866;179444865 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs372388682  |
-0.2 | 1.0 | N | 0.806 | 0.631 | 0.587178975671 | gnomAD-2.1.1 | 6.44E-05 | None | None | None | None | I | None | 1.24028E-04 | 1.13244E-04 | None | 0 | 5.15E-05 | None | 0 | None | 0 | 7.84E-05 | 0 |
| G/R | rs372388682 |
-0.2 | 1.0 | N | 0.806 | 0.631 | 0.587178975671 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | I | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.89E-05 | 0 | 0 |
| G/R | rs372388682 |
-0.2 | 1.0 | N | 0.806 | 0.631 | 0.587178975671 | gnomAD-4.0.0 | 8.86468E-05 | None | None | None | None | I | None | 8.01539E-05 | 6.67089E-05 | None | 0 | 6.69733E-05 | None | 0 | 0 | 1.05133E-04 | 0 | 9.60984E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8878 | likely_pathogenic | 0.898 | pathogenic | -0.272 | Destabilizing | 1.0 | D | 0.617 | neutral | N | 0.503190111 | None | None | I |
| G/C | 0.9121 | likely_pathogenic | 0.9179 | pathogenic | -0.86 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/D | 0.9882 | likely_pathogenic | 0.9908 | pathogenic | -0.245 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| G/E | 0.9908 | likely_pathogenic | 0.9921 | pathogenic | -0.397 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.528993821 | None | None | I |
| G/F | 0.9907 | likely_pathogenic | 0.9902 | pathogenic | -0.954 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | I |
| G/H | 0.9945 | likely_pathogenic | 0.9947 | pathogenic | -0.421 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | I |
| G/I | 0.9874 | likely_pathogenic | 0.9884 | pathogenic | -0.41 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| G/K | 0.9952 | likely_pathogenic | 0.9957 | pathogenic | -0.625 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/L | 0.9864 | likely_pathogenic | 0.987 | pathogenic | -0.41 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/M | 0.9897 | likely_pathogenic | 0.9896 | pathogenic | -0.533 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/N | 0.9765 | likely_pathogenic | 0.9786 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | I |
| G/P | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -0.332 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| G/Q | 0.9889 | likely_pathogenic | 0.99 | pathogenic | -0.547 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/R | 0.9859 | likely_pathogenic | 0.9884 | pathogenic | -0.231 | Destabilizing | 1.0 | D | 0.806 | deleterious | N | 0.508496483 | None | None | I |
| G/S | 0.8113 | likely_pathogenic | 0.8288 | pathogenic | -0.503 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| G/T | 0.9714 | likely_pathogenic | 0.9739 | pathogenic | -0.574 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/V | 0.9798 | likely_pathogenic | 0.9814 | pathogenic | -0.332 | Destabilizing | 1.0 | D | 0.794 | deleterious | D | 0.549059859 | None | None | I |
| G/W | 0.9915 | likely_pathogenic | 0.9922 | pathogenic | -1.091 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/Y | 0.9895 | likely_pathogenic | 0.9899 | pathogenic | -0.744 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
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.