Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16434 | 49525;49526;49527 | chr2:178614097;178614096;178614095 | chr2:179478824;179478823;179478822 |
| N2AB | 14793 | 44602;44603;44604 | chr2:178614097;178614096;178614095 | chr2:179478824;179478823;179478822 |
| N2A | 13866 | 41821;41822;41823 | chr2:178614097;178614096;178614095 | chr2:179478824;179478823;179478822 |
| N2B | 7369 | 22330;22331;22332 | chr2:178614097;178614096;178614095 | chr2:179478824;179478823;179478822 |
| Novex-1 | 7494 | 22705;22706;22707 | chr2:178614097;178614096;178614095 | chr2:179478824;179478823;179478822 |
| Novex-2 | 7561 | 22906;22907;22908 | chr2:178614097;178614096;178614095 | chr2:179478824;179478823;179478822 |
| 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/A | None | None | 1.0 | D | 0.693 | 0.62 | 0.463586170655 | 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 |
| G/C | rs775667867  |
-0.943 | 1.0 | D | 0.845 | 0.545 | 0.752200549989 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| G/R | rs775667867 |
None | 1.0 | D | 0.912 | 0.513 | 0.704045212085 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.84E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs775667867 |
None | 1.0 | D | 0.912 | 0.513 | 0.704045212085 | gnomAD-4.0.0 | 1.31752E-05 | None | None | None | None | N | None | 4.83536E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7306 | likely_pathogenic | 0.6925 | pathogenic | -0.867 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | D | 0.720645793 | None | None | N |
| G/C | 0.9567 | likely_pathogenic | 0.9376 | pathogenic | -1.028 | Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.792352329 | None | None | N |
| G/D | 0.9905 | likely_pathogenic | 0.986 | pathogenic | -1.631 | Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.758237738 | None | None | N |
| G/E | 0.9934 | likely_pathogenic | 0.9918 | pathogenic | -1.696 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| G/F | 0.9984 | likely_pathogenic | 0.9978 | pathogenic | -1.126 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| G/H | 0.9969 | likely_pathogenic | 0.9952 | pathogenic | -1.419 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| G/I | 0.9972 | likely_pathogenic | 0.9964 | pathogenic | -0.51 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| G/K | 0.9986 | likely_pathogenic | 0.9981 | pathogenic | -1.463 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| G/L | 0.9955 | likely_pathogenic | 0.9937 | pathogenic | -0.51 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| G/M | 0.9965 | likely_pathogenic | 0.9953 | pathogenic | -0.414 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| G/N | 0.9899 | likely_pathogenic | 0.9854 | pathogenic | -1.118 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/P | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -0.59 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| G/Q | 0.9949 | likely_pathogenic | 0.9931 | pathogenic | -1.347 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| G/R | 0.995 | likely_pathogenic | 0.9937 | pathogenic | -1.067 | Destabilizing | 1.0 | D | 0.912 | deleterious | D | 0.756376411 | None | None | N |
| G/S | 0.3595 | ambiguous | 0.2991 | benign | -1.321 | Destabilizing | 1.0 | D | 0.805 | deleterious | N | 0.487343356 | None | None | N |
| G/T | 0.9289 | likely_pathogenic | 0.9055 | pathogenic | -1.323 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| G/V | 0.9927 | likely_pathogenic | 0.9908 | pathogenic | -0.59 | Destabilizing | 1.0 | D | 0.898 | deleterious | D | 0.791821189 | None | None | N |
| G/W | 0.9952 | likely_pathogenic | 0.9931 | pathogenic | -1.457 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| G/Y | 0.9977 | likely_pathogenic | 0.9965 | pathogenic | -1.093 | Destabilizing | 1.0 | D | 0.867 | 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.