Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17023 | 51292;51293;51294 | chr2:178611062;178611061;178611060 | chr2:179475789;179475788;179475787 |
| N2AB | 15382 | 46369;46370;46371 | chr2:178611062;178611061;178611060 | chr2:179475789;179475788;179475787 |
| N2A | 14455 | 43588;43589;43590 | chr2:178611062;178611061;178611060 | chr2:179475789;179475788;179475787 |
| N2B | 7958 | 24097;24098;24099 | chr2:178611062;178611061;178611060 | chr2:179475789;179475788;179475787 |
| Novex-1 | 8083 | 24472;24473;24474 | chr2:178611062;178611061;178611060 | chr2:179475789;179475788;179475787 |
| Novex-2 | 8150 | 24673;24674;24675 | chr2:178611062;178611061;178611060 | chr2:179475789;179475788;179475787 |
| 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 | 0.76 | 0.746 | 0.558966020747 | gnomAD-4.0.0 | 1.36917E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79977E-06 | 0 | 0 |
| G/R | rs745424139  |
-0.554 | 1.0 | D | 0.775 | 0.722 | 0.882641294641 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/R | rs745424139 |
-0.554 | 1.0 | D | 0.775 | 0.722 | 0.882641294641 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.42E-05 | 0 | 0 |
| G/R | rs745424139 |
-0.554 | 1.0 | D | 0.775 | 0.722 | 0.882641294641 | gnomAD-4.0.0 | 6.84587E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65788E-05 |
| G/V | rs2056219937 |
None | 1.0 | D | 0.733 | 0.77 | 0.945741928972 | gnomAD-4.0.0 | 2.05376E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79977E-06 | 1.15996E-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 | 0.7214 | likely_pathogenic | 0.717 | pathogenic | -0.785 | Destabilizing | 1.0 | D | 0.76 | deleterious | D | 0.675346887 | None | None | N |
| G/C | 0.9378 | likely_pathogenic | 0.9304 | pathogenic | -0.942 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| G/D | 0.9593 | likely_pathogenic | 0.9597 | pathogenic | -1.273 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| G/E | 0.9803 | likely_pathogenic | 0.9811 | pathogenic | -1.297 | Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.803148226 | None | None | N |
| G/F | 0.995 | likely_pathogenic | 0.9947 | pathogenic | -1.065 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| G/H | 0.9937 | likely_pathogenic | 0.9927 | pathogenic | -1.468 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| G/I | 0.9933 | likely_pathogenic | 0.9933 | pathogenic | -0.283 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| G/K | 0.9931 | likely_pathogenic | 0.9925 | pathogenic | -1.243 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| G/L | 0.9887 | likely_pathogenic | 0.9888 | pathogenic | -0.283 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| G/M | 0.9928 | likely_pathogenic | 0.9925 | pathogenic | -0.203 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| G/N | 0.9779 | likely_pathogenic | 0.9762 | pathogenic | -1.004 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/P | 0.9988 | likely_pathogenic | 0.9986 | pathogenic | -0.408 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| G/Q | 0.9852 | likely_pathogenic | 0.9842 | pathogenic | -1.133 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| G/R | 0.9806 | likely_pathogenic | 0.9773 | pathogenic | -0.996 | Destabilizing | 1.0 | D | 0.775 | deleterious | D | 0.803093783 | None | None | N |
| G/S | 0.7156 | likely_pathogenic | 0.7039 | pathogenic | -1.311 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/T | 0.9595 | likely_pathogenic | 0.9605 | pathogenic | -1.248 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| G/V | 0.9798 | likely_pathogenic | 0.9782 | pathogenic | -0.408 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | D | 0.803148226 | None | None | N |
| G/W | 0.9939 | likely_pathogenic | 0.9916 | pathogenic | -1.496 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| G/Y | 0.9944 | likely_pathogenic | 0.9936 | pathogenic | -1.047 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | 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.