Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19647 | 59164;59165;59166 | chr2:178593269;178593268;178593267 | chr2:179457996;179457995;179457994 |
| N2AB | 18006 | 54241;54242;54243 | chr2:178593269;178593268;178593267 | chr2:179457996;179457995;179457994 |
| N2A | 17079 | 51460;51461;51462 | chr2:178593269;178593268;178593267 | chr2:179457996;179457995;179457994 |
| N2B | 10582 | 31969;31970;31971 | chr2:178593269;178593268;178593267 | chr2:179457996;179457995;179457994 |
| Novex-1 | 10707 | 32344;32345;32346 | chr2:178593269;178593268;178593267 | chr2:179457996;179457995;179457994 |
| Novex-2 | 10774 | 32545;32546;32547 | chr2:178593269;178593268;178593267 | chr2:179457996;179457995;179457994 |
| 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/E | rs1559611400  |
None | 1.0 | N | 0.853 | 0.603 | 0.757941578563 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| G/E | rs1559611400 |
None | 1.0 | N | 0.853 | 0.603 | 0.757941578563 | gnomAD-4.0.0 | 2.05306E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52423E-05 | None | 0 | 1.73551E-04 | 8.99599E-07 | 0 | 0 |
| G/R | rs201430346 |
-0.726 | 1.0 | D | 0.846 | 0.606 | 0.845230334104 | gnomAD-2.1.1 | 2.86E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 5.47E-05 | 1.40449E-04 |
| G/R | rs201430346 |
-0.726 | 1.0 | D | 0.846 | 0.606 | 0.845230334104 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 7.36E-05 | 0 | 0 |
| G/R | rs201430346 |
-0.726 | 1.0 | D | 0.846 | 0.606 | 0.845230334104 | gnomAD-4.0.0 | 4.27709E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.76482E-05 | 0 | 1.60143E-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 | 0.569 | likely_pathogenic | 0.5492 | ambiguous | -0.411 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | N | 0.496623653 | None | None | N |
| G/C | 0.6976 | likely_pathogenic | 0.6429 | pathogenic | -0.774 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| G/D | 0.3457 | ambiguous | 0.3358 | benign | -0.621 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| G/E | 0.6627 | likely_pathogenic | 0.6524 | pathogenic | -0.733 | Destabilizing | 1.0 | D | 0.853 | deleterious | N | 0.50765079 | None | None | N |
| G/F | 0.9158 | likely_pathogenic | 0.9086 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| G/H | 0.7922 | likely_pathogenic | 0.7801 | pathogenic | -0.795 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/I | 0.911 | likely_pathogenic | 0.9 | pathogenic | -0.286 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| G/K | 0.8812 | likely_pathogenic | 0.8768 | pathogenic | -1.005 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| G/L | 0.9073 | likely_pathogenic | 0.9016 | pathogenic | -0.286 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/M | 0.895 | likely_pathogenic | 0.8875 | pathogenic | -0.352 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/N | 0.3353 | likely_benign | 0.3559 | ambiguous | -0.603 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/P | 0.9925 | likely_pathogenic | 0.9923 | pathogenic | -0.289 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| G/Q | 0.8007 | likely_pathogenic | 0.7955 | pathogenic | -0.826 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| G/R | 0.8456 | likely_pathogenic | 0.8326 | pathogenic | -0.603 | Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.544455184 | None | None | N |
| G/S | 0.3071 | likely_benign | 0.2896 | benign | -0.815 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| G/T | 0.635 | likely_pathogenic | 0.6171 | pathogenic | -0.847 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| G/V | 0.8477 | likely_pathogenic | 0.8243 | pathogenic | -0.289 | Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.530238496 | None | None | N |
| G/W | 0.8685 | likely_pathogenic | 0.8264 | pathogenic | -1.154 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| G/Y | 0.7808 | likely_pathogenic | 0.772 | pathogenic | -0.766 | Destabilizing | 1.0 | D | 0.801 | 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.