Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18790 | 56593;56594;56595 | chr2:178599425;178599424;178599423 | chr2:179464152;179464151;179464150 |
| N2AB | 17149 | 51670;51671;51672 | chr2:178599425;178599424;178599423 | chr2:179464152;179464151;179464150 |
| N2A | 16222 | 48889;48890;48891 | chr2:178599425;178599424;178599423 | chr2:179464152;179464151;179464150 |
| N2B | 9725 | 29398;29399;29400 | chr2:178599425;178599424;178599423 | chr2:179464152;179464151;179464150 |
| Novex-1 | 9850 | 29773;29774;29775 | chr2:178599425;178599424;178599423 | chr2:179464152;179464151;179464150 |
| Novex-2 | 9917 | 29974;29975;29976 | chr2:178599425;178599424;178599423 | chr2:179464152;179464151;179464150 |
| 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 | rs768353681  |
-0.329 | 0.994 | N | 0.837 | 0.466 | 0.457650129517 | gnomAD-2.1.1 | 5.15E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.08E-05 | 0 |
| G/R | rs768353681 |
-0.329 | 0.994 | N | 0.837 | 0.466 | 0.457650129517 | gnomAD-4.0.0 | 7.18281E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.25655E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3404 | ambiguous | 0.2917 | benign | -0.221 | Destabilizing | 0.067 | N | 0.441 | neutral | N | 0.469063128 | None | None | N |
| G/C | 0.668 | likely_pathogenic | 0.5696 | pathogenic | -0.724 | Destabilizing | 0.999 | D | 0.797 | deleterious | None | None | None | None | N |
| G/D | 0.8296 | likely_pathogenic | 0.751 | pathogenic | -0.355 | Destabilizing | 0.995 | D | 0.821 | deleterious | None | None | None | None | N |
| G/E | 0.7925 | likely_pathogenic | 0.6988 | pathogenic | -0.43 | Destabilizing | 0.988 | D | 0.83 | deleterious | N | 0.460744997 | None | None | N |
| G/F | 0.8914 | likely_pathogenic | 0.8606 | pathogenic | -0.614 | Destabilizing | 0.999 | D | 0.819 | deleterious | None | None | None | None | N |
| G/H | 0.9285 | likely_pathogenic | 0.8826 | pathogenic | -0.47 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/I | 0.8467 | likely_pathogenic | 0.7982 | pathogenic | -0.059 | Destabilizing | 0.991 | D | 0.819 | deleterious | None | None | None | None | N |
| G/K | 0.9293 | likely_pathogenic | 0.8666 | pathogenic | -0.777 | Destabilizing | 0.991 | D | 0.835 | deleterious | None | None | None | None | N |
| G/L | 0.812 | likely_pathogenic | 0.7885 | pathogenic | -0.059 | Destabilizing | 0.982 | D | 0.803 | deleterious | None | None | None | None | N |
| G/M | 0.8972 | likely_pathogenic | 0.8551 | pathogenic | -0.377 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| G/N | 0.8732 | likely_pathogenic | 0.8073 | pathogenic | -0.549 | Destabilizing | 0.995 | D | 0.808 | deleterious | None | None | None | None | N |
| G/P | 0.759 | likely_pathogenic | 0.7144 | pathogenic | -0.075 | Destabilizing | 0.995 | D | 0.844 | deleterious | None | None | None | None | N |
| G/Q | 0.8926 | likely_pathogenic | 0.8237 | pathogenic | -0.683 | Destabilizing | 0.999 | D | 0.834 | deleterious | None | None | None | None | N |
| G/R | 0.9029 | likely_pathogenic | 0.823 | pathogenic | -0.473 | Destabilizing | 0.994 | D | 0.837 | deleterious | N | 0.483154893 | None | None | N |
| G/S | 0.4052 | ambiguous | 0.3213 | benign | -0.774 | Destabilizing | 0.938 | D | 0.724 | prob.delet. | None | None | None | None | N |
| G/T | 0.7183 | likely_pathogenic | 0.62 | pathogenic | -0.757 | Destabilizing | 0.991 | D | 0.822 | deleterious | None | None | None | None | N |
| G/V | 0.777 | likely_pathogenic | 0.6992 | pathogenic | -0.075 | Destabilizing | 0.976 | D | 0.801 | deleterious | N | 0.503033574 | None | None | N |
| G/W | 0.8615 | likely_pathogenic | 0.7939 | pathogenic | -0.912 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/Y | 0.8415 | likely_pathogenic | 0.77 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.815 | 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.