Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6761 | 20506;20507;20508 | chr2:178726041;178726040;178726039 | chr2:179590768;179590767;179590766 |
| N2AB | 6444 | 19555;19556;19557 | chr2:178726041;178726040;178726039 | chr2:179590768;179590767;179590766 |
| N2A | 5517 | 16774;16775;16776 | chr2:178726041;178726040;178726039 | chr2:179590768;179590767;179590766 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/H | None | None | 1.0 | D | 0.823 | 0.851 | 0.926979556658 | gnomAD-4.0.0 | 7.38886E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.48012E-05 | 0 |
| P/L | None | None | 1.0 | D | 0.854 | 0.837 | 0.946790031181 | gnomAD-4.0.0 | 7.38886E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.44275E-07 | 0 | 0 |
| P/S | None | None | 1.0 | D | 0.873 | 0.834 | 0.807443498692 | gnomAD-4.0.0 | 6.63649E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.48327E-06 | 0 | 0 |
| P/T | None | None | 1.0 | D | 0.868 | 0.83 | 0.910513559645 | gnomAD-4.0.0 | 7.37388E-07 | None | None | None | None | N | None | 0 | 3.56328E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.7167 | likely_pathogenic | 0.6923 | pathogenic | -1.727 | Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.648029967 | None | None | N |
| P/C | 0.9889 | likely_pathogenic | 0.9888 | pathogenic | -1.435 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| P/D | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.371 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| P/E | 0.9976 | likely_pathogenic | 0.9979 | pathogenic | -1.267 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/F | 0.9987 | likely_pathogenic | 0.9989 | pathogenic | -1.17 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/G | 0.9908 | likely_pathogenic | 0.9884 | pathogenic | -2.152 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| P/H | 0.9969 | likely_pathogenic | 0.9974 | pathogenic | -1.688 | Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.674778904 | None | None | N |
| P/I | 0.9624 | likely_pathogenic | 0.9692 | pathogenic | -0.61 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| P/K | 0.9983 | likely_pathogenic | 0.9985 | pathogenic | -1.215 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/L | 0.905 | likely_pathogenic | 0.9201 | pathogenic | -0.61 | Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.65812377 | None | None | N |
| P/M | 0.9873 | likely_pathogenic | 0.9895 | pathogenic | -0.703 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| P/N | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -1.212 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| P/Q | 0.9946 | likely_pathogenic | 0.9951 | pathogenic | -1.231 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| P/R | 0.9933 | likely_pathogenic | 0.9938 | pathogenic | -0.933 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.674778904 | None | None | N |
| P/S | 0.9755 | likely_pathogenic | 0.9724 | pathogenic | -1.921 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.6745771 | None | None | N |
| P/T | 0.9599 | likely_pathogenic | 0.9609 | pathogenic | -1.681 | Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.6745771 | None | None | N |
| P/V | 0.8966 | likely_pathogenic | 0.9045 | pathogenic | -0.95 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| P/W | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.424 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| P/Y | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -1.077 | 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.