Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15672 | 47239;47240;47241 | chr2:178618444;178618443;178618442 | chr2:179483171;179483170;179483169 |
| N2AB | 14031 | 42316;42317;42318 | chr2:178618444;178618443;178618442 | chr2:179483171;179483170;179483169 |
| N2A | 13104 | 39535;39536;39537 | chr2:178618444;178618443;178618442 | chr2:179483171;179483170;179483169 |
| N2B | 6607 | 20044;20045;20046 | chr2:178618444;178618443;178618442 | chr2:179483171;179483170;179483169 |
| Novex-1 | 6732 | 20419;20420;20421 | chr2:178618444;178618443;178618442 | chr2:179483171;179483170;179483169 |
| Novex-2 | 6799 | 20620;20621;20622 | chr2:178618444;178618443;178618442 | chr2:179483171;179483170;179483169 |
| 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/S | None | None | 1.0 | N | 0.771 | 0.399 | 0.177238962908 | gnomAD-4.0.0 | 1.59411E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.03049E-05 |
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 | 0.6423 | likely_pathogenic | 0.5268 | ambiguous | -0.839 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | N | 0.471826134 | None | None | N |
| G/C | 0.8131 | likely_pathogenic | 0.7034 | pathogenic | -1.354 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | D | 0.541648 | None | None | N |
| G/D | 0.8741 | likely_pathogenic | 0.72 | pathogenic | -1.74 | Destabilizing | 1.0 | D | 0.823 | deleterious | N | 0.432268265 | None | None | N |
| G/E | 0.8965 | likely_pathogenic | 0.7539 | pathogenic | -1.804 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| G/F | 0.9779 | likely_pathogenic | 0.9585 | pathogenic | -1.33 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| G/H | 0.9311 | likely_pathogenic | 0.8743 | pathogenic | -1.176 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| G/I | 0.9818 | likely_pathogenic | 0.956 | pathogenic | -0.572 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| G/K | 0.963 | likely_pathogenic | 0.9045 | pathogenic | -1.173 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| G/L | 0.9616 | likely_pathogenic | 0.9285 | pathogenic | -0.572 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| G/M | 0.9537 | likely_pathogenic | 0.922 | pathogenic | -0.564 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| G/N | 0.697 | likely_pathogenic | 0.6029 | pathogenic | -1.028 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| G/P | 0.9989 | likely_pathogenic | 0.9973 | pathogenic | -0.624 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/Q | 0.8722 | likely_pathogenic | 0.785 | pathogenic | -1.305 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| G/R | 0.9201 | likely_pathogenic | 0.8211 | pathogenic | -0.808 | Destabilizing | 1.0 | D | 0.806 | deleterious | N | 0.465412352 | None | None | N |
| G/S | 0.3335 | likely_benign | 0.2919 | benign | -1.253 | Destabilizing | 1.0 | D | 0.771 | deleterious | N | 0.455416533 | None | None | N |
| G/T | 0.7768 | likely_pathogenic | 0.6728 | pathogenic | -1.25 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| G/V | 0.9577 | likely_pathogenic | 0.9075 | pathogenic | -0.624 | Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.499261731 | None | None | N |
| G/W | 0.9616 | likely_pathogenic | 0.9197 | pathogenic | -1.579 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| G/Y | 0.9541 | likely_pathogenic | 0.9103 | pathogenic | -1.18 | Destabilizing | 1.0 | D | 0.748 | 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.