Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31282 | 94069;94070;94071 | chr2:178547782;178547781;178547780 | chr2:179412509;179412508;179412507 |
| N2AB | 29641 | 89146;89147;89148 | chr2:178547782;178547781;178547780 | chr2:179412509;179412508;179412507 |
| N2A | 28714 | 86365;86366;86367 | chr2:178547782;178547781;178547780 | chr2:179412509;179412508;179412507 |
| N2B | 22217 | 66874;66875;66876 | chr2:178547782;178547781;178547780 | chr2:179412509;179412508;179412507 |
| Novex-1 | 22342 | 67249;67250;67251 | chr2:178547782;178547781;178547780 | chr2:179412509;179412508;179412507 |
| Novex-2 | 22409 | 67450;67451;67452 | chr2:178547782;178547781;178547780 | chr2:179412509;179412508;179412507 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs1697827813  |
None | 1.0 | D | 0.577 | 0.803 | 0.478527412683 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/E | rs1697827813 |
None | 1.0 | D | 0.577 | 0.803 | 0.478527412683 | gnomAD-4.0.0 | 6.57324E-06 | None | None | None | None | N | None | 0 | 6.54965E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9779 | likely_pathogenic | 0.9901 | pathogenic | 0.232 | Stabilizing | 1.0 | D | 0.839 | deleterious | D | 0.626460141 | None | None | N |
| D/C | 0.9905 | likely_pathogenic | 0.9946 | pathogenic | 0.354 | Stabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| D/E | 0.9496 | likely_pathogenic | 0.9671 | pathogenic | -0.503 | Destabilizing | 1.0 | D | 0.577 | neutral | D | 0.609229954 | None | None | N |
| D/F | 0.9915 | likely_pathogenic | 0.9959 | pathogenic | 0.939 | Stabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| D/G | 0.9738 | likely_pathogenic | 0.9878 | pathogenic | -0.231 | Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.626661945 | None | None | N |
| D/H | 0.9514 | likely_pathogenic | 0.9696 | pathogenic | 0.678 | Stabilizing | 1.0 | D | 0.831 | deleterious | D | 0.549552921 | None | None | N |
| D/I | 0.9893 | likely_pathogenic | 0.9954 | pathogenic | 1.481 | Stabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| D/K | 0.9901 | likely_pathogenic | 0.9951 | pathogenic | 0.509 | Stabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| D/L | 0.9867 | likely_pathogenic | 0.9941 | pathogenic | 1.481 | Stabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| D/M | 0.9957 | likely_pathogenic | 0.9979 | pathogenic | 1.874 | Stabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| D/N | 0.8401 | likely_pathogenic | 0.9058 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.782 | deleterious | D | 0.608826346 | None | None | N |
| D/P | 0.9971 | likely_pathogenic | 0.9988 | pathogenic | 1.094 | Stabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| D/Q | 0.988 | likely_pathogenic | 0.9928 | pathogenic | -0.08 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| D/R | 0.9907 | likely_pathogenic | 0.9955 | pathogenic | 0.513 | Stabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| D/S | 0.943 | likely_pathogenic | 0.9709 | pathogenic | -0.682 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| D/T | 0.9843 | likely_pathogenic | 0.9943 | pathogenic | -0.243 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| D/V | 0.9754 | likely_pathogenic | 0.9891 | pathogenic | 1.094 | Stabilizing | 1.0 | D | 0.847 | deleterious | D | 0.627065554 | None | None | N |
| D/W | 0.9973 | likely_pathogenic | 0.9988 | pathogenic | 1.089 | Stabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| D/Y | 0.9353 | likely_pathogenic | 0.9682 | pathogenic | 1.274 | Stabilizing | 1.0 | D | 0.847 | deleterious | D | 0.62686375 | 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.