Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17597 | 53014;53015;53016 | chr2:178607998;178607997;178607996 | chr2:179472725;179472724;179472723 |
| N2AB | 15956 | 48091;48092;48093 | chr2:178607998;178607997;178607996 | chr2:179472725;179472724;179472723 |
| N2A | 15029 | 45310;45311;45312 | chr2:178607998;178607997;178607996 | chr2:179472725;179472724;179472723 |
| N2B | 8532 | 25819;25820;25821 | chr2:178607998;178607997;178607996 | chr2:179472725;179472724;179472723 |
| Novex-1 | 8657 | 26194;26195;26196 | chr2:178607998;178607997;178607996 | chr2:179472725;179472724;179472723 |
| Novex-2 | 8724 | 26395;26396;26397 | chr2:178607998;178607997;178607996 | chr2:179472725;179472724;179472723 |
| 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/V | rs1205224939  |
None | 1.0 | N | 0.811 | 0.429 | 0.525205403968 | gnomAD-4.0.0 | 1.59309E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02939E-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 | 0.895 | likely_pathogenic | 0.9001 | pathogenic | -0.539 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | N | 0.502227561 | None | None | I |
| G/C | 0.9545 | likely_pathogenic | 0.9637 | pathogenic | -0.89 | Destabilizing | 1.0 | D | 0.775 | deleterious | N | 0.515015898 | None | None | I |
| G/D | 0.9804 | likely_pathogenic | 0.9849 | pathogenic | -0.578 | Destabilizing | 1.0 | D | 0.857 | deleterious | N | 0.495390706 | None | None | I |
| G/E | 0.9895 | likely_pathogenic | 0.9908 | pathogenic | -0.713 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/F | 0.9962 | likely_pathogenic | 0.9958 | pathogenic | -1.138 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/H | 0.9913 | likely_pathogenic | 0.9924 | pathogenic | -0.866 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/I | 0.9949 | likely_pathogenic | 0.9952 | pathogenic | -0.496 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/K | 0.9932 | likely_pathogenic | 0.9932 | pathogenic | -0.905 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/L | 0.9933 | likely_pathogenic | 0.9934 | pathogenic | -0.496 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/M | 0.997 | likely_pathogenic | 0.997 | pathogenic | -0.406 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | I |
| G/N | 0.9787 | likely_pathogenic | 0.9841 | pathogenic | -0.532 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| G/P | 0.9986 | likely_pathogenic | 0.9987 | pathogenic | -0.474 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | I |
| G/Q | 0.9874 | likely_pathogenic | 0.9885 | pathogenic | -0.806 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/R | 0.9695 | likely_pathogenic | 0.9695 | pathogenic | -0.498 | Destabilizing | 1.0 | D | 0.841 | deleterious | N | 0.484034401 | None | None | I |
| G/S | 0.8397 | likely_pathogenic | 0.8708 | pathogenic | -0.771 | Destabilizing | 1.0 | D | 0.787 | deleterious | N | 0.494630238 | None | None | I |
| G/T | 0.9836 | likely_pathogenic | 0.9876 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/V | 0.9892 | likely_pathogenic | 0.9901 | pathogenic | -0.474 | Destabilizing | 1.0 | D | 0.811 | deleterious | N | 0.503241519 | None | None | I |
| G/W | 0.9867 | likely_pathogenic | 0.9869 | pathogenic | -1.316 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/Y | 0.9916 | likely_pathogenic | 0.9919 | pathogenic | -0.954 | Destabilizing | 1.0 | D | 0.785 | 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.