Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17537 | 52834;52835;52836 | chr2:178608274;178608273;178608272 | chr2:179473001;179473000;179472999 |
| N2AB | 15896 | 47911;47912;47913 | chr2:178608274;178608273;178608272 | chr2:179473001;179473000;179472999 |
| N2A | 14969 | 45130;45131;45132 | chr2:178608274;178608273;178608272 | chr2:179473001;179473000;179472999 |
| N2B | 8472 | 25639;25640;25641 | chr2:178608274;178608273;178608272 | chr2:179473001;179473000;179472999 |
| Novex-1 | 8597 | 26014;26015;26016 | chr2:178608274;178608273;178608272 | chr2:179473001;179473000;179472999 |
| Novex-2 | 8664 | 26215;26216;26217 | chr2:178608274;178608273;178608272 | chr2:179473001;179473000;179472999 |
| 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/R | rs370766845  |
-0.645 | 1.0 | D | 0.857 | 0.78 | 0.687563720044 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 6.54E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs370766845 |
-0.645 | 1.0 | D | 0.857 | 0.78 | 0.687563720044 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8049 | likely_pathogenic | 0.8367 | pathogenic | -0.5 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | N | 0.486090268 | None | None | N |
| G/C | 0.842 | likely_pathogenic | 0.8829 | pathogenic | -0.877 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/D | 0.6858 | likely_pathogenic | 0.7265 | pathogenic | -0.956 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| G/E | 0.8627 | likely_pathogenic | 0.8912 | pathogenic | -1.109 | Destabilizing | 1.0 | D | 0.861 | deleterious | N | 0.500738256 | None | None | N |
| G/F | 0.9677 | likely_pathogenic | 0.9764 | pathogenic | -1.15 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| G/H | 0.9196 | likely_pathogenic | 0.9345 | pathogenic | -0.833 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/I | 0.9683 | likely_pathogenic | 0.9781 | pathogenic | -0.524 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| G/K | 0.9489 | likely_pathogenic | 0.9569 | pathogenic | -1.097 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/L | 0.9687 | likely_pathogenic | 0.9762 | pathogenic | -0.524 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/M | 0.9617 | likely_pathogenic | 0.9716 | pathogenic | -0.427 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| G/N | 0.6596 | likely_pathogenic | 0.6941 | pathogenic | -0.698 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/P | 0.9972 | likely_pathogenic | 0.9976 | pathogenic | -0.48 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/Q | 0.9192 | likely_pathogenic | 0.9353 | pathogenic | -1.012 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/R | 0.9263 | likely_pathogenic | 0.9448 | pathogenic | -0.588 | Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.52437592 | None | None | N |
| G/S | 0.5497 | ambiguous | 0.6 | pathogenic | -0.832 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/T | 0.8578 | likely_pathogenic | 0.8866 | pathogenic | -0.922 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/V | 0.9424 | likely_pathogenic | 0.9589 | pathogenic | -0.48 | Destabilizing | 1.0 | D | 0.843 | deleterious | N | 0.518388439 | None | None | N |
| G/W | 0.9388 | likely_pathogenic | 0.9543 | pathogenic | -1.333 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| G/Y | 0.9145 | likely_pathogenic | 0.9374 | pathogenic | -0.989 | Destabilizing | 1.0 | D | 0.813 | 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.