Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14786 | 44581;44582;44583 | chr2:178629369;178629368;178629367 | chr2:179494096;179494095;179494094 |
| N2AB | 13145 | 39658;39659;39660 | chr2:178629369;178629368;178629367 | chr2:179494096;179494095;179494094 |
| N2A | 12218 | 36877;36878;36879 | chr2:178629369;178629368;178629367 | chr2:179494096;179494095;179494094 |
| N2B | 5721 | 17386;17387;17388 | chr2:178629369;178629368;178629367 | chr2:179494096;179494095;179494094 |
| Novex-1 | 5846 | 17761;17762;17763 | chr2:178629369;178629368;178629367 | chr2:179494096;179494095;179494094 |
| Novex-2 | 5913 | 17962;17963;17964 | chr2:178629369;178629368;178629367 | chr2:179494096;179494095;179494094 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/D | rs1480354933  |
-0.928 | 0.999 | D | 0.447 | 0.341 | 0.3085936734 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.68938E-04 | None | 0 | None | 0 | 0 | 0 |
| E/D | rs1480354933 |
-0.928 | 0.999 | D | 0.447 | 0.341 | 0.3085936734 | gnomAD-4.0.0 | 3.18642E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57445E-05 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | rs764555693 |
-0.241 | 1.0 | D | 0.539 | 0.442 | 0.513560046879 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.81E-05 | None | 0 | 1.78E-05 | 0 |
| E/K | rs764555693 |
-0.241 | 1.0 | D | 0.539 | 0.442 | 0.513560046879 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| E/K | rs764555693 |
-0.241 | 1.0 | D | 0.539 | 0.442 | 0.513560046879 | gnomAD-4.0.0 | 8.06041E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.23924E-05 | None | 0 | 0 | 6.78348E-06 | 4.39338E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.4083 | ambiguous | 0.4547 | ambiguous | -1.203 | Destabilizing | 0.999 | D | 0.651 | neutral | D | 0.645784986 | None | None | N |
| E/C | 0.9591 | likely_pathogenic | 0.9624 | pathogenic | -0.814 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| E/D | 0.6574 | likely_pathogenic | 0.725 | pathogenic | -1.526 | Destabilizing | 0.999 | D | 0.447 | neutral | D | 0.635553395 | None | None | N |
| E/F | 0.9393 | likely_pathogenic | 0.9468 | pathogenic | -0.847 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| E/G | 0.67 | likely_pathogenic | 0.7385 | pathogenic | -1.585 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | D | 0.736773524 | None | None | N |
| E/H | 0.8489 | likely_pathogenic | 0.8588 | pathogenic | -1.121 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| E/I | 0.6212 | likely_pathogenic | 0.6445 | pathogenic | -0.138 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| E/K | 0.5509 | ambiguous | 0.603 | pathogenic | -1.29 | Destabilizing | 1.0 | D | 0.539 | neutral | D | 0.573105903 | None | None | N |
| E/L | 0.7786 | likely_pathogenic | 0.7819 | pathogenic | -0.138 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| E/M | 0.7246 | likely_pathogenic | 0.7449 | pathogenic | 0.455 | Stabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| E/N | 0.8139 | likely_pathogenic | 0.8571 | pathogenic | -1.583 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| E/P | 0.9868 | likely_pathogenic | 0.9892 | pathogenic | -0.474 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| E/Q | 0.2816 | likely_benign | 0.2903 | benign | -1.427 | Destabilizing | 1.0 | D | 0.584 | neutral | D | 0.568033859 | None | None | N |
| E/R | 0.6743 | likely_pathogenic | 0.703 | pathogenic | -1.054 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| E/S | 0.5497 | ambiguous | 0.5889 | pathogenic | -2.07 | Highly Destabilizing | 0.999 | D | 0.59 | neutral | None | None | None | None | N |
| E/T | 0.5582 | ambiguous | 0.5929 | pathogenic | -1.744 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| E/V | 0.4178 | ambiguous | 0.4399 | ambiguous | -0.474 | Destabilizing | 1.0 | D | 0.754 | deleterious | D | 0.576676065 | None | None | N |
| E/W | 0.9858 | likely_pathogenic | 0.9877 | pathogenic | -0.745 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| E/Y | 0.9132 | likely_pathogenic | 0.9272 | pathogenic | -0.633 | Destabilizing | 1.0 | D | 0.769 | 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.