Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8715 | 26368;26369;26370 | chr2:178715043;178715042;178715041 | chr2:179579770;179579769;179579768 |
| N2AB | 8398 | 25417;25418;25419 | chr2:178715043;178715042;178715041 | chr2:179579770;179579769;179579768 |
| N2A | 7471 | 22636;22637;22638 | chr2:178715043;178715042;178715041 | chr2:179579770;179579769;179579768 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/F | rs183499397  |
-1.599 | 1.0 | D | 0.893 | 0.669 | 0.85205978809 | gnomAD-2.1.1 | 2.82E-05 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.29238E-04 | None | 0 | 0 | 0 |
| C/F | rs183499397 |
-1.599 | 1.0 | D | 0.893 | 0.669 | 0.85205978809 | gnomAD-3.1.2 | 1.31E-05 | None | None | disulfide | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.1425E-04 | 0 |
| C/F | rs183499397 |
-1.599 | 1.0 | D | 0.893 | 0.669 | 0.85205978809 | gnomAD-4.0.0 | 2.10733E-05 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.5161E-04 | 3.20266E-05 |
| C/R | rs2077266576 |
None | 1.0 | D | 0.905 | 0.753 | 0.867485530764 | gnomAD-3.1.2 | 6.57E-06 | None | None | disulfide | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| C/R | rs2077266576 |
None | 1.0 | D | 0.905 | 0.753 | 0.867485530764 | gnomAD-4.0.0 | 3.84458E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.1814E-06 | 0 | 0 |
| C/Y | rs183499397 |
-1.807 | 1.0 | D | 0.907 | 0.66 | None | gnomAD-2.1.1 | 6.79E-05 | None | None | disulfide | None | N | None | 1.65399E-04 | 0 | None | 0 | 7.68206E-04 | None | 0 | None | 0 | 0 | 0 |
| C/Y | rs183499397 |
-1.807 | 1.0 | D | 0.907 | 0.66 | None | gnomAD-3.1.2 | 5.26E-05 | None | None | disulfide | None | N | None | 1.44788E-04 | 0 | 0 | 0 | 3.86847E-04 | None | 0 | 0 | 0 | 0 | 0 |
| C/Y | rs183499397 |
-1.807 | 1.0 | D | 0.907 | 0.66 | None | 1000 genomes | 1.99681E-04 | None | None | disulfide | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| C/Y | rs183499397 |
-1.807 | 1.0 | D | 0.907 | 0.66 | None | gnomAD-4.0.0 | 1.92125E-05 | None | None | disulfide | None | N | None | 9.33259E-05 | 1.66633E-05 | None | 0 | 5.12775E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.9464 | likely_pathogenic | 0.9526 | pathogenic | -1.566 | Destabilizing | 0.999 | D | 0.715 | prob.delet. | None | None | disulfide | None | N |
| C/D | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -1.513 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -1.272 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | disulfide | None | N |
| C/F | 0.8777 | likely_pathogenic | 0.9068 | pathogenic | -0.916 | Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.563840114 | disulfide | None | N |
| C/G | 0.8589 | likely_pathogenic | 0.888 | pathogenic | -1.924 | Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.565361051 | disulfide | None | N |
| C/H | 0.9974 | likely_pathogenic | 0.9986 | pathogenic | -2.117 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | disulfide | None | N |
| C/I | 0.895 | likely_pathogenic | 0.9225 | pathogenic | -0.591 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9995 | likely_pathogenic | 0.9998 | pathogenic | -1.071 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | disulfide | None | N |
| C/L | 0.8594 | likely_pathogenic | 0.8908 | pathogenic | -0.591 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | disulfide | None | N |
| C/M | 0.9584 | likely_pathogenic | 0.9678 | pathogenic | 0.182 | Stabilizing | 1.0 | D | 0.837 | deleterious | None | None | disulfide | None | N |
| C/N | 0.9968 | likely_pathogenic | 0.9979 | pathogenic | -1.697 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9991 | likely_pathogenic | 0.9995 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9983 | likely_pathogenic | 0.999 | pathogenic | -1.209 | Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9949 | likely_pathogenic | 0.9973 | pathogenic | -1.501 | Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.565361051 | disulfide | None | N |
| C/S | 0.9796 | likely_pathogenic | 0.9846 | pathogenic | -1.983 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.565361051 | disulfide | None | N |
| C/T | 0.9869 | likely_pathogenic | 0.9895 | pathogenic | -1.561 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | disulfide | None | N |
| C/V | 0.821 | likely_pathogenic | 0.8506 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | disulfide | None | N |
| C/W | 0.9868 | likely_pathogenic | 0.9913 | pathogenic | -1.34 | Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.565361051 | disulfide | None | N |
| C/Y | 0.9695 | likely_pathogenic | 0.981 | pathogenic | -1.126 | Destabilizing | 1.0 | D | 0.907 | deleterious | D | 0.565361051 | disulfide | 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.