Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27255 | 81988;81989;81990 | chr2:178564369;178564368;178564367 | chr2:179429096;179429095;179429094 |
| N2AB | 25614 | 77065;77066;77067 | chr2:178564369;178564368;178564367 | chr2:179429096;179429095;179429094 |
| N2A | 24687 | 74284;74285;74286 | chr2:178564369;178564368;178564367 | chr2:179429096;179429095;179429094 |
| N2B | 18190 | 54793;54794;54795 | chr2:178564369;178564368;178564367 | chr2:179429096;179429095;179429094 |
| Novex-1 | 18315 | 55168;55169;55170 | chr2:178564369;178564368;178564367 | chr2:179429096;179429095;179429094 |
| Novex-2 | 18382 | 55369;55370;55371 | chr2:178564369;178564368;178564367 | chr2:179429096;179429095;179429094 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/R | None | None | 1.0 | D | 0.833 | 0.546 | 0.405700215632 | gnomAD-4.0.0 | 6.84249E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65662E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.6813 | likely_pathogenic | 0.665 | pathogenic | -0.696 | Destabilizing | 0.998 | D | 0.734 | prob.delet. | None | None | None | None | N |
| S/C | 0.8093 | likely_pathogenic | 0.8046 | pathogenic | -0.595 | Destabilizing | 1.0 | D | 0.83 | deleterious | D | 0.556364013 | None | None | N |
| S/D | 0.9959 | likely_pathogenic | 0.9954 | pathogenic | -1.203 | Destabilizing | 0.999 | D | 0.777 | deleterious | None | None | None | None | N |
| S/E | 0.9975 | likely_pathogenic | 0.9973 | pathogenic | -1.113 | Destabilizing | 0.999 | D | 0.753 | deleterious | None | None | None | None | N |
| S/F | 0.9971 | likely_pathogenic | 0.9963 | pathogenic | -0.543 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| S/G | 0.4856 | ambiguous | 0.4528 | ambiguous | -1.038 | Destabilizing | 0.999 | D | 0.759 | deleterious | N | 0.46249297 | None | None | N |
| S/H | 0.9939 | likely_pathogenic | 0.993 | pathogenic | -1.514 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| S/I | 0.9945 | likely_pathogenic | 0.9936 | pathogenic | 0.134 | Stabilizing | 1.0 | D | 0.901 | deleterious | D | 0.555857034 | None | None | N |
| S/K | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -0.852 | Destabilizing | 0.999 | D | 0.762 | deleterious | None | None | None | None | N |
| S/L | 0.9624 | likely_pathogenic | 0.9543 | pathogenic | 0.134 | Stabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| S/M | 0.9879 | likely_pathogenic | 0.9856 | pathogenic | 0.285 | Stabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| S/N | 0.9873 | likely_pathogenic | 0.9854 | pathogenic | -1.156 | Destabilizing | 0.999 | D | 0.744 | deleterious | D | 0.555603545 | None | None | N |
| S/P | 0.9934 | likely_pathogenic | 0.9914 | pathogenic | -0.107 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| S/Q | 0.9959 | likely_pathogenic | 0.9952 | pathogenic | -1.124 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| S/R | 0.9983 | likely_pathogenic | 0.998 | pathogenic | -0.931 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.554589587 | None | None | N |
| S/T | 0.8087 | likely_pathogenic | 0.7932 | pathogenic | -0.936 | Destabilizing | 0.999 | D | 0.744 | deleterious | D | 0.543829166 | None | None | N |
| S/V | 0.9906 | likely_pathogenic | 0.9893 | pathogenic | -0.107 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| S/W | 0.9963 | likely_pathogenic | 0.9952 | pathogenic | -0.697 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| S/Y | 0.9956 | likely_pathogenic | 0.9946 | pathogenic | -0.36 | Destabilizing | 1.0 | D | 0.904 | 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.