Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30011 | 90256;90257;90258 | chr2:178552869;178552868;178552867 | chr2:179417596;179417595;179417594 |
| N2AB | 28370 | 85333;85334;85335 | chr2:178552869;178552868;178552867 | chr2:179417596;179417595;179417594 |
| N2A | 27443 | 82552;82553;82554 | chr2:178552869;178552868;178552867 | chr2:179417596;179417595;179417594 |
| N2B | 20946 | 63061;63062;63063 | chr2:178552869;178552868;178552867 | chr2:179417596;179417595;179417594 |
| Novex-1 | 21071 | 63436;63437;63438 | chr2:178552869;178552868;178552867 | chr2:179417596;179417595;179417594 |
| Novex-2 | 21138 | 63637;63638;63639 | chr2:178552869;178552868;178552867 | chr2:179417596;179417595;179417594 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/H | rs1553540660  |
None | 1.0 | D | 0.787 | 0.655 | 0.43656330218 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 1.26695E-04 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9987 | likely_pathogenic | 0.9984 | pathogenic | -0.961 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| N/C | 0.9915 | likely_pathogenic | 0.9904 | pathogenic | -0.851 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| N/D | 0.9903 | likely_pathogenic | 0.9882 | pathogenic | -2.38 | Highly Destabilizing | 0.999 | D | 0.629 | neutral | D | 0.562707116 | None | None | N |
| N/E | 0.9983 | likely_pathogenic | 0.998 | pathogenic | -2.189 | Highly Destabilizing | 0.999 | D | 0.756 | deleterious | None | None | None | None | N |
| N/F | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.764 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| N/G | 0.9938 | likely_pathogenic | 0.9936 | pathogenic | -1.251 | Destabilizing | 0.999 | D | 0.599 | neutral | None | None | None | None | N |
| N/H | 0.9949 | likely_pathogenic | 0.9935 | pathogenic | -0.915 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.563721074 | None | None | N |
| N/I | 0.9977 | likely_pathogenic | 0.9971 | pathogenic | -0.214 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.564228053 | None | None | N |
| N/K | 0.9982 | likely_pathogenic | 0.9978 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.562960605 | None | None | N |
| N/L | 0.993 | likely_pathogenic | 0.993 | pathogenic | -0.214 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| N/M | 0.9957 | likely_pathogenic | 0.9951 | pathogenic | -0.188 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| N/P | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -0.439 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| N/Q | 0.9993 | likely_pathogenic | 0.9991 | pathogenic | -1.152 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| N/R | 0.9981 | likely_pathogenic | 0.9978 | pathogenic | -0.481 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| N/S | 0.9632 | likely_pathogenic | 0.9591 | pathogenic | -1.227 | Destabilizing | 0.999 | D | 0.615 | neutral | D | 0.533674175 | None | None | N |
| N/T | 0.9832 | likely_pathogenic | 0.9788 | pathogenic | -0.903 | Destabilizing | 0.999 | D | 0.749 | deleterious | N | 0.512666176 | None | None | N |
| N/V | 0.9972 | likely_pathogenic | 0.9967 | pathogenic | -0.439 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| N/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -0.845 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| N/Y | 0.996 | likely_pathogenic | 0.9953 | pathogenic | -0.418 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.563974563 | 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.