Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32824 | 98695;98696;98697 | chr2:178539595;178539594;178539593 | chr2:179404322;179404321;179404320 |
| N2AB | 31183 | 93772;93773;93774 | chr2:178539595;178539594;178539593 | chr2:179404322;179404321;179404320 |
| N2A | 30256 | 90991;90992;90993 | chr2:178539595;178539594;178539593 | chr2:179404322;179404321;179404320 |
| N2B | 23759 | 71500;71501;71502 | chr2:178539595;178539594;178539593 | chr2:179404322;179404321;179404320 |
| Novex-1 | 23884 | 71875;71876;71877 | chr2:178539595;178539594;178539593 | chr2:179404322;179404321;179404320 |
| Novex-2 | 23951 | 72076;72077;72078 | chr2:178539595;178539594;178539593 | chr2:179404322;179404321;179404320 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | None | None | 1.0 | N | 0.836 | 0.511 | 0.443797312901 | gnomAD-4.0.0 | 6.84179E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15931E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9282 | likely_pathogenic | 0.9102 | pathogenic | -0.287 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | N | 0.514633824 | None | None | I |
| G/C | 0.9787 | likely_pathogenic | 0.973 | pathogenic | -0.735 | Destabilizing | 1.0 | D | 0.784 | deleterious | D | 0.542399317 | None | None | I |
| G/D | 0.9931 | likely_pathogenic | 0.9917 | pathogenic | -0.674 | Destabilizing | 1.0 | D | 0.836 | deleterious | N | 0.513619866 | None | None | I |
| G/E | 0.9957 | likely_pathogenic | 0.9949 | pathogenic | -0.844 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | I |
| G/F | 0.998 | likely_pathogenic | 0.9976 | pathogenic | -1.116 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| G/H | 0.9972 | likely_pathogenic | 0.9966 | pathogenic | -0.623 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/I | 0.998 | likely_pathogenic | 0.9975 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | I |
| G/K | 0.9975 | likely_pathogenic | 0.9969 | pathogenic | -0.722 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/L | 0.9967 | likely_pathogenic | 0.9961 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/M | 0.9984 | likely_pathogenic | 0.998 | pathogenic | -0.286 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/N | 0.9938 | likely_pathogenic | 0.9922 | pathogenic | -0.316 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/P | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -0.336 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/Q | 0.9956 | likely_pathogenic | 0.9947 | pathogenic | -0.647 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | I |
| G/R | 0.9886 | likely_pathogenic | 0.986 | pathogenic | -0.274 | Destabilizing | 1.0 | D | 0.827 | deleterious | N | 0.49602259 | None | None | I |
| G/S | 0.9195 | likely_pathogenic | 0.8905 | pathogenic | -0.449 | Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.503655912 | None | None | I |
| G/T | 0.992 | likely_pathogenic | 0.9896 | pathogenic | -0.555 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | I |
| G/V | 0.9953 | likely_pathogenic | 0.9941 | pathogenic | -0.336 | Destabilizing | 1.0 | D | 0.802 | deleterious | N | 0.510051921 | None | None | I |
| G/W | 0.9952 | likely_pathogenic | 0.9946 | pathogenic | -1.273 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/Y | 0.9972 | likely_pathogenic | 0.9966 | pathogenic | -0.903 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
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.