Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34388 | 103387;103388;103389 | chr2:178533453;178533452;178533451 | chr2:179398180;179398179;179398178 |
| N2AB | 32747 | 98464;98465;98466 | chr2:178533453;178533452;178533451 | chr2:179398180;179398179;179398178 |
| N2A | 31820 | 95683;95684;95685 | chr2:178533453;178533452;178533451 | chr2:179398180;179398179;179398178 |
| N2B | 25323 | 76192;76193;76194 | chr2:178533453;178533452;178533451 | chr2:179398180;179398179;179398178 |
| Novex-1 | 25448 | 76567;76568;76569 | chr2:178533453;178533452;178533451 | chr2:179398180;179398179;179398178 |
| Novex-2 | 25515 | 76768;76769;76770 | chr2:178533453;178533452;178533451 | chr2:179398180;179398179;179398178 |
| 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 | rs760436734  |
-1.063 | 1.0 | D | 0.855 | 0.892 | 0.659056841285 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| G/D | rs760436734 |
-1.063 | 1.0 | D | 0.855 | 0.892 | 0.659056841285 | gnomAD-4.0.0 | 3.18335E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43308E-05 | 3.02462E-05 |
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 | 0.9292 | likely_pathogenic | 0.8816 | pathogenic | -0.556 | Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.562304129 | None | None | I |
| G/C | 0.9901 | likely_pathogenic | 0.9853 | pathogenic | -0.778 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | D | 0.651151752 | None | None | I |
| G/D | 0.9966 | likely_pathogenic | 0.9966 | pathogenic | -1.097 | Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.649940926 | None | None | I |
| G/E | 0.9979 | likely_pathogenic | 0.998 | pathogenic | -1.212 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/F | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -1.072 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| G/H | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -1.125 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | I |
| G/I | 0.9979 | likely_pathogenic | 0.9974 | pathogenic | -0.421 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/K | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -1.307 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/L | 0.9982 | likely_pathogenic | 0.9978 | pathogenic | -0.421 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/M | 0.9992 | likely_pathogenic | 0.9989 | pathogenic | -0.357 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | I |
| G/N | 0.9975 | likely_pathogenic | 0.9972 | pathogenic | -0.851 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/P | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -0.428 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/Q | 0.9986 | likely_pathogenic | 0.9985 | pathogenic | -1.094 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/R | 0.9967 | likely_pathogenic | 0.997 | pathogenic | -0.876 | Destabilizing | 1.0 | D | 0.826 | deleterious | D | 0.650748143 | None | None | I |
| G/S | 0.9348 | likely_pathogenic | 0.8851 | pathogenic | -0.979 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.594423214 | None | None | I |
| G/T | 0.992 | likely_pathogenic | 0.9886 | pathogenic | -1.029 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/V | 0.9941 | likely_pathogenic | 0.9927 | pathogenic | -0.428 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.650748143 | None | None | I |
| G/W | 0.9986 | likely_pathogenic | 0.9985 | pathogenic | -1.365 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | I |
| G/Y | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -0.996 | Destabilizing | 1.0 | D | 0.775 | 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.