Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20108 | 60547;60548;60549 | chr2:178591403;178591402;178591401 | chr2:179456130;179456129;179456128 |
| N2AB | 18467 | 55624;55625;55626 | chr2:178591403;178591402;178591401 | chr2:179456130;179456129;179456128 |
| N2A | 17540 | 52843;52844;52845 | chr2:178591403;178591402;178591401 | chr2:179456130;179456129;179456128 |
| N2B | 11043 | 33352;33353;33354 | chr2:178591403;178591402;178591401 | chr2:179456130;179456129;179456128 |
| Novex-1 | 11168 | 33727;33728;33729 | chr2:178591403;178591402;178591401 | chr2:179456130;179456129;179456128 |
| Novex-2 | 11235 | 33928;33929;33930 | chr2:178591403;178591402;178591401 | chr2:179456130;179456129;179456128 |
| 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/A | None | None | 1.0 | D | 0.803 | 0.569 | 0.577206278835 | gnomAD-4.0.0 | 1.59473E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86361E-06 | 0 | 0 |
| P/L | rs751528859  |
-0.644 | 1.0 | D | 0.857 | 0.53 | 0.754373025274 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| P/L | rs751528859 |
-0.644 | 1.0 | D | 0.857 | 0.53 | 0.754373025274 | gnomAD-4.0.0 | 2.73906E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59973E-06 | 0 | 0 |
| P/S | None | None | 1.0 | D | 0.853 | 0.593 | 0.602534368506 | gnomAD-4.0.0 | 3.18946E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86361E-06 | 0 | 3.02975E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.547 | ambiguous | 0.7017 | pathogenic | -1.363 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.535550047 | None | None | N |
| P/C | 0.9682 | likely_pathogenic | 0.9839 | pathogenic | -1.007 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| P/D | 0.999 | likely_pathogenic | 0.9995 | pathogenic | -1.242 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/E | 0.9964 | likely_pathogenic | 0.9981 | pathogenic | -1.298 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| P/F | 0.9974 | likely_pathogenic | 0.9986 | pathogenic | -1.396 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| P/G | 0.9603 | likely_pathogenic | 0.9802 | pathogenic | -1.603 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| P/H | 0.9948 | likely_pathogenic | 0.9973 | pathogenic | -1.199 | Destabilizing | 1.0 | D | 0.834 | deleterious | D | 0.55517524 | None | None | N |
| P/I | 0.9725 | likely_pathogenic | 0.9877 | pathogenic | -0.824 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| P/K | 0.9977 | likely_pathogenic | 0.9987 | pathogenic | -0.977 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| P/L | 0.9029 | likely_pathogenic | 0.9537 | pathogenic | -0.824 | Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.524759492 | None | None | N |
| P/M | 0.9831 | likely_pathogenic | 0.9927 | pathogenic | -0.595 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/N | 0.9977 | likely_pathogenic | 0.9989 | pathogenic | -0.736 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/Q | 0.9887 | likely_pathogenic | 0.9946 | pathogenic | -1.012 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/R | 0.9917 | likely_pathogenic | 0.9952 | pathogenic | -0.452 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.572607931 | None | None | N |
| P/S | 0.948 | likely_pathogenic | 0.9768 | pathogenic | -1.201 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.549388342 | None | None | N |
| P/T | 0.9439 | likely_pathogenic | 0.9759 | pathogenic | -1.157 | Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.545602906 | None | None | N |
| P/V | 0.9299 | likely_pathogenic | 0.9662 | pathogenic | -0.97 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/W | 0.9994 | likely_pathogenic | 0.9997 | pathogenic | -1.494 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| P/Y | 0.9985 | likely_pathogenic | 0.9992 | pathogenic | -1.188 | Destabilizing | 1.0 | D | 0.849 | 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.