Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19120 | 57583;57584;57585 | chr2:178597724;178597723;178597722 | chr2:179462451;179462450;179462449 |
| N2AB | 17479 | 52660;52661;52662 | chr2:178597724;178597723;178597722 | chr2:179462451;179462450;179462449 |
| N2A | 16552 | 49879;49880;49881 | chr2:178597724;178597723;178597722 | chr2:179462451;179462450;179462449 |
| N2B | 10055 | 30388;30389;30390 | chr2:178597724;178597723;178597722 | chr2:179462451;179462450;179462449 |
| Novex-1 | 10180 | 30763;30764;30765 | chr2:178597724;178597723;178597722 | chr2:179462451;179462450;179462449 |
| Novex-2 | 10247 | 30964;30965;30966 | chr2:178597724;178597723;178597722 | chr2:179462451;179462450;179462449 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs936369232  |
0.019 | 1.0 | D | 0.761 | 0.586 | 0.803403390734 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| P/L | rs936369232 |
0.019 | 1.0 | D | 0.761 | 0.586 | 0.803403390734 | gnomAD-4.0.0 | 1.3688E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79924E-06 | 0 | 0 |
| P/R | None | None | 1.0 | D | 0.782 | 0.618 | 0.691061782995 | gnomAD-4.0.0 | 4.10639E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39773E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.8046 | likely_pathogenic | 0.9087 | pathogenic | -0.752 | Destabilizing | 1.0 | D | 0.74 | deleterious | D | 0.550099585 | None | None | I |
| P/C | 0.9837 | likely_pathogenic | 0.9923 | pathogenic | -0.522 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| P/D | 0.9481 | likely_pathogenic | 0.9744 | pathogenic | -0.781 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| P/E | 0.9457 | likely_pathogenic | 0.9756 | pathogenic | -0.9 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | I |
| P/F | 0.9855 | likely_pathogenic | 0.9949 | pathogenic | -0.974 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| P/G | 0.953 | likely_pathogenic | 0.9763 | pathogenic | -0.905 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| P/H | 0.9266 | likely_pathogenic | 0.9637 | pathogenic | -0.558 | Destabilizing | 1.0 | D | 0.78 | deleterious | D | 0.621065018 | None | None | I |
| P/I | 0.8805 | likely_pathogenic | 0.9451 | pathogenic | -0.49 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| P/K | 0.9355 | likely_pathogenic | 0.9594 | pathogenic | -0.718 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| P/L | 0.7952 | likely_pathogenic | 0.904 | pathogenic | -0.49 | Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.604813492 | None | None | I |
| P/M | 0.9253 | likely_pathogenic | 0.9684 | pathogenic | -0.338 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | I |
| P/N | 0.928 | likely_pathogenic | 0.9651 | pathogenic | -0.337 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| P/Q | 0.9274 | likely_pathogenic | 0.9656 | pathogenic | -0.635 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| P/R | 0.9176 | likely_pathogenic | 0.9514 | pathogenic | -0.118 | Destabilizing | 1.0 | D | 0.782 | deleterious | D | 0.620661409 | None | None | I |
| P/S | 0.9155 | likely_pathogenic | 0.9622 | pathogenic | -0.643 | Destabilizing | 1.0 | D | 0.753 | deleterious | D | 0.561113495 | None | None | I |
| P/T | 0.8052 | likely_pathogenic | 0.9126 | pathogenic | -0.673 | Destabilizing | 1.0 | D | 0.747 | deleterious | D | 0.620661409 | None | None | I |
| P/V | 0.8361 | likely_pathogenic | 0.9205 | pathogenic | -0.543 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| P/W | 0.9943 | likely_pathogenic | 0.998 | pathogenic | -1.061 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| P/Y | 0.9767 | likely_pathogenic | 0.9913 | pathogenic | -0.785 | Destabilizing | 1.0 | D | 0.803 | 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.