Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5569 | 16930;16931;16932 | chr2:178732264;178732263;178732262 | chr2:179596991;179596990;179596989 |
| N2AB | 5252 | 15979;15980;15981 | chr2:178732264;178732263;178732262 | chr2:179596991;179596990;179596989 |
| N2A | 4325 | 13198;13199;13200 | chr2:178732264;178732263;178732262 | chr2:179596991;179596990;179596989 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs761085549  |
-0.496 | 1.0 | D | 0.802 | 0.611 | 0.667121220962 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | I | None | 0 | 2.83E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/D | rs761085549 |
-0.496 | 1.0 | D | 0.802 | 0.611 | 0.667121220962 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs761085549 |
-0.496 | 1.0 | D | 0.802 | 0.611 | 0.667121220962 | gnomAD-4.0.0 | 2.56247E-06 | None | None | None | None | I | None | 0 | 1.69497E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 1.34037E-05 | 0 |
| G/S | rs1311137790 |
None | 1.0 | D | 0.815 | 0.53 | 0.552085806491 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 2.07383E-04 | 0 |
| G/S | rs1311137790 |
None | 1.0 | D | 0.815 | 0.53 | 0.552085806491 | gnomAD-4.0.0 | 6.40605E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78622E-06 | 4.02134E-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 | 0.6948 | likely_pathogenic | 0.6924 | pathogenic | -0.294 | Destabilizing | 1.0 | D | 0.758 | deleterious | D | 0.574144526 | None | None | I |
| G/C | 0.9506 | likely_pathogenic | 0.9609 | pathogenic | -0.834 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | D | 0.645115471 | None | None | I |
| G/D | 0.979 | likely_pathogenic | 0.9838 | pathogenic | -0.756 | Destabilizing | 1.0 | D | 0.802 | deleterious | D | 0.634385894 | None | None | I |
| G/E | 0.9845 | likely_pathogenic | 0.9884 | pathogenic | -0.922 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/F | 0.993 | likely_pathogenic | 0.9943 | pathogenic | -1.057 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | I |
| G/H | 0.9945 | likely_pathogenic | 0.996 | pathogenic | -0.637 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | I |
| G/I | 0.9812 | likely_pathogenic | 0.9853 | pathogenic | -0.423 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | I |
| G/K | 0.9927 | likely_pathogenic | 0.9946 | pathogenic | -0.922 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | I |
| G/L | 0.9853 | likely_pathogenic | 0.9888 | pathogenic | -0.423 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| G/M | 0.991 | likely_pathogenic | 0.9935 | pathogenic | -0.434 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | I |
| G/N | 0.9818 | likely_pathogenic | 0.9867 | pathogenic | -0.512 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| G/P | 0.9959 | likely_pathogenic | 0.9967 | pathogenic | -0.347 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/Q | 0.9887 | likely_pathogenic | 0.9914 | pathogenic | -0.813 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/R | 0.9763 | likely_pathogenic | 0.9814 | pathogenic | -0.464 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.644711862 | None | None | I |
| G/S | 0.7142 | likely_pathogenic | 0.7539 | pathogenic | -0.616 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.562384492 | None | None | I |
| G/T | 0.9491 | likely_pathogenic | 0.9592 | pathogenic | -0.718 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| G/V | 0.9567 | likely_pathogenic | 0.9642 | pathogenic | -0.347 | Destabilizing | 1.0 | D | 0.752 | deleterious | D | 0.660731223 | None | None | I |
| G/W | 0.9841 | likely_pathogenic | 0.988 | pathogenic | -1.231 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | I |
| G/Y | 0.99 | likely_pathogenic | 0.9923 | pathogenic | -0.877 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | 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.