Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 183 | 772;773;774 | chr2:178800431;178800430;178800429 | chr2:179665158;179665157;179665156 |
| N2AB | 183 | 772;773;774 | chr2:178800431;178800430;178800429 | chr2:179665158;179665157;179665156 |
| N2A | 183 | 772;773;774 | chr2:178800431;178800430;178800429 | chr2:179665158;179665157;179665156 |
| N2B | 183 | 772;773;774 | chr2:178800431;178800430;178800429 | chr2:179665158;179665157;179665156 |
| Novex-1 | 183 | 772;773;774 | chr2:178800431;178800430;178800429 | chr2:179665158;179665157;179665156 |
| Novex-2 | 183 | 772;773;774 | chr2:178800431;178800430;178800429 | chr2:179665158;179665157;179665156 |
| Novex-3 | 183 | 772;773;774 | chr2:178800431;178800430;178800429 | chr2:179665158;179665157;179665156 |
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/R | rs757439753  |
-0.383 | 1.0 | D | 0.864 | 0.728 | 0.895147227962 | gnomAD-2.1.1 | 1.19E-05 | None | None | None | -2.419(TCAP) | I | None | 0 | 0 | None | 0 | 0 | None | 9.8E-05 | None | 0 | 0 | 0 |
| G/R | rs757439753 |
-0.383 | 1.0 | D | 0.864 | 0.728 | 0.895147227962 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -2.419(TCAP) | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07211E-04 | 0 |
| G/R | rs757439753 |
-0.383 | 1.0 | D | 0.864 | 0.728 | 0.895147227962 | gnomAD-4.0.0 | 1.11522E-05 | None | None | None | -2.419(TCAP) | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.97628E-04 | 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 | 0.8914 | likely_pathogenic | 0.9158 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.755 | deleterious | D | 0.730586867 | None | -1.534(TCAP) | I |
| G/C | 0.9847 | likely_pathogenic | 0.9894 | pathogenic | -0.9 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | -1.11(TCAP) | I |
| G/D | 0.9659 | likely_pathogenic | 0.977 | pathogenic | -0.716 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | -2.476(TCAP) | I |
| G/E | 0.9756 | likely_pathogenic | 0.9837 | pathogenic | -0.883 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.767970081 | None | -2.607(TCAP) | I |
| G/F | 0.9953 | likely_pathogenic | 0.9968 | pathogenic | -1.122 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | -1.468(TCAP) | I |
| G/H | 0.9957 | likely_pathogenic | 0.9973 | pathogenic | -0.647 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | -1.529(TCAP) | I |
| G/I | 0.9925 | likely_pathogenic | 0.9952 | pathogenic | -0.545 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | -2.013(TCAP) | I |
| G/K | 0.9954 | likely_pathogenic | 0.9971 | pathogenic | -0.941 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | -2.51(TCAP) | I |
| G/L | 0.989 | likely_pathogenic | 0.9923 | pathogenic | -0.545 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | -2.013(TCAP) | I |
| G/M | 0.9958 | likely_pathogenic | 0.9971 | pathogenic | -0.516 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | -1.238(TCAP) | I |
| G/N | 0.9805 | likely_pathogenic | 0.9869 | pathogenic | -0.57 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | -1.186(TCAP) | I |
| G/P | 0.9987 | likely_pathogenic | 0.9993 | pathogenic | -0.467 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | -1.845(TCAP) | I |
| G/Q | 0.9863 | likely_pathogenic | 0.9911 | pathogenic | -0.882 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | -1.501(TCAP) | I |
| G/R | 0.986 | likely_pathogenic | 0.9907 | pathogenic | -0.446 | Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.812626154 | None | -2.419(TCAP) | I |
| G/S | 0.8425 | likely_pathogenic | 0.8777 | pathogenic | -0.703 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | -1.182(TCAP) | I |
| G/T | 0.973 | likely_pathogenic | 0.9802 | pathogenic | -0.806 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | -1.366(TCAP) | I |
| G/V | 0.9835 | likely_pathogenic | 0.989 | pathogenic | -0.467 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.845328536 | None | -1.845(TCAP) | I |
| G/W | 0.9922 | likely_pathogenic | 0.9945 | pathogenic | -1.264 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | -1.648(TCAP) | I |
| G/Y | 0.9932 | likely_pathogenic | 0.9956 | pathogenic | -0.931 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | -1.233(TCAP) | 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.