Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20937 | 63034;63035;63036 | chr2:178588916;178588915;178588914 | chr2:179453643;179453642;179453641 |
| N2AB | 19296 | 58111;58112;58113 | chr2:178588916;178588915;178588914 | chr2:179453643;179453642;179453641 |
| N2A | 18369 | 55330;55331;55332 | chr2:178588916;178588915;178588914 | chr2:179453643;179453642;179453641 |
| N2B | 11872 | 35839;35840;35841 | chr2:178588916;178588915;178588914 | chr2:179453643;179453642;179453641 |
| Novex-1 | 11997 | 36214;36215;36216 | chr2:178588916;178588915;178588914 | chr2:179453643;179453642;179453641 |
| Novex-2 | 12064 | 36415;36416;36417 | chr2:178588916;178588915;178588914 | chr2:179453643;179453642;179453641 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | None | None | 1.0 | D | 0.717 | 0.594 | 0.574740180783 | gnomAD-4.0.0 | 1.59308E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78971E-05 | None | 0 | 0 | 0 | 0 | 0 |
| R/K | None | None | 0.997 | N | 0.631 | 0.451 | 0.50055108712 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9921 | likely_pathogenic | 0.9911 | pathogenic | -1.913 | Destabilizing | 0.999 | D | 0.601 | neutral | None | None | None | None | N |
| R/C | 0.8124 | likely_pathogenic | 0.798 | pathogenic | -1.775 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| R/D | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -1.116 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| R/E | 0.9887 | likely_pathogenic | 0.989 | pathogenic | -0.91 | Destabilizing | 0.999 | D | 0.673 | neutral | None | None | None | None | N |
| R/F | 0.996 | likely_pathogenic | 0.9961 | pathogenic | -1.025 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| R/G | 0.9904 | likely_pathogenic | 0.9919 | pathogenic | -2.212 | Highly Destabilizing | 1.0 | D | 0.717 | prob.delet. | D | 0.544602861 | None | None | N |
| R/H | 0.7201 | likely_pathogenic | 0.7627 | pathogenic | -2.234 | Highly Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| R/I | 0.9864 | likely_pathogenic | 0.9821 | pathogenic | -1.04 | Destabilizing | 1.0 | D | 0.844 | deleterious | N | 0.518104815 | None | None | N |
| R/K | 0.767 | likely_pathogenic | 0.7644 | pathogenic | -1.328 | Destabilizing | 0.997 | D | 0.631 | neutral | N | 0.484868365 | None | None | N |
| R/L | 0.9713 | likely_pathogenic | 0.9679 | pathogenic | -1.04 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| R/M | 0.9891 | likely_pathogenic | 0.9878 | pathogenic | -1.602 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| R/N | 0.9967 | likely_pathogenic | 0.9968 | pathogenic | -1.366 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| R/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.323 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| R/Q | 0.7256 | likely_pathogenic | 0.7218 | pathogenic | -1.099 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| R/S | 0.9942 | likely_pathogenic | 0.9942 | pathogenic | -2.058 | Highly Destabilizing | 1.0 | D | 0.726 | prob.delet. | D | 0.523203242 | None | None | N |
| R/T | 0.9937 | likely_pathogenic | 0.9921 | pathogenic | -1.668 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.504213614 | None | None | N |
| R/V | 0.9878 | likely_pathogenic | 0.9848 | pathogenic | -1.323 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| R/W | 0.934 | likely_pathogenic | 0.9377 | pathogenic | -0.712 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| R/Y | 0.9865 | likely_pathogenic | 0.9886 | pathogenic | -0.59 | Destabilizing | 1.0 | D | 0.835 | 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.