Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32925 | 98998;98999;99000 | chr2:178539162;178539161;178539160 | chr2:179403889;179403888;179403887 |
| N2AB | 31284 | 94075;94076;94077 | chr2:178539162;178539161;178539160 | chr2:179403889;179403888;179403887 |
| N2A | 30357 | 91294;91295;91296 | chr2:178539162;178539161;178539160 | chr2:179403889;179403888;179403887 |
| N2B | 23860 | 71803;71804;71805 | chr2:178539162;178539161;178539160 | chr2:179403889;179403888;179403887 |
| Novex-1 | 23985 | 72178;72179;72180 | chr2:178539162;178539161;178539160 | chr2:179403889;179403888;179403887 |
| Novex-2 | 24052 | 72379;72380;72381 | chr2:178539162;178539161;178539160 | chr2:179403889;179403888;179403887 |
| 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 | rs763528740  |
-1.99 | 1.0 | N | 0.878 | 0.495 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 1.77E-05 | 0 |
| G/D | rs763528740 |
-1.99 | 1.0 | N | 0.878 | 0.495 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| G/D | rs763528740 |
-1.99 | 1.0 | N | 0.878 | 0.495 | None | gnomAD-4.0.0 | 6.81688E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47629E-06 | 1.09784E-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 | 0.9391 | likely_pathogenic | 0.9342 | pathogenic | -0.393 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | N | 0.513364193 | None | None | N |
| G/C | 0.9754 | likely_pathogenic | 0.9791 | pathogenic | -0.832 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.529608797 | None | None | N |
| G/D | 0.9929 | likely_pathogenic | 0.9945 | pathogenic | -0.812 | Destabilizing | 1.0 | D | 0.878 | deleterious | N | 0.515464107 | None | None | N |
| G/E | 0.996 | likely_pathogenic | 0.9965 | pathogenic | -0.976 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| G/F | 0.997 | likely_pathogenic | 0.9964 | pathogenic | -1.194 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| G/H | 0.9953 | likely_pathogenic | 0.9952 | pathogenic | -0.715 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/I | 0.9979 | likely_pathogenic | 0.9978 | pathogenic | -0.492 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| G/K | 0.9965 | likely_pathogenic | 0.9957 | pathogenic | -0.846 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| G/L | 0.9964 | likely_pathogenic | 0.9957 | pathogenic | -0.492 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/M | 0.9983 | likely_pathogenic | 0.9978 | pathogenic | -0.338 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| G/N | 0.9842 | likely_pathogenic | 0.9893 | pathogenic | -0.46 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/P | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -0.425 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/Q | 0.9945 | likely_pathogenic | 0.9942 | pathogenic | -0.79 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/R | 0.9866 | likely_pathogenic | 0.9834 | pathogenic | -0.373 | Destabilizing | 1.0 | D | 0.863 | deleterious | N | 0.48792933 | None | None | N |
| G/S | 0.9028 | likely_pathogenic | 0.9127 | pathogenic | -0.597 | Destabilizing | 1.0 | D | 0.785 | deleterious | N | 0.504361291 | None | None | N |
| G/T | 0.9894 | likely_pathogenic | 0.9895 | pathogenic | -0.697 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| G/V | 0.9956 | likely_pathogenic | 0.9956 | pathogenic | -0.425 | Destabilizing | 1.0 | D | 0.822 | deleterious | N | 0.517745512 | None | None | N |
| G/W | 0.9937 | likely_pathogenic | 0.9922 | pathogenic | -1.345 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| G/Y | 0.9957 | likely_pathogenic | 0.9949 | pathogenic | -0.988 | Destabilizing | 1.0 | D | 0.799 | 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.