Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20700 | 62323;62324;62325 | chr2:178589627;178589626;178589625 | chr2:179454354;179454353;179454352 |
| N2AB | 19059 | 57400;57401;57402 | chr2:178589627;178589626;178589625 | chr2:179454354;179454353;179454352 |
| N2A | 18132 | 54619;54620;54621 | chr2:178589627;178589626;178589625 | chr2:179454354;179454353;179454352 |
| N2B | 11635 | 35128;35129;35130 | chr2:178589627;178589626;178589625 | chr2:179454354;179454353;179454352 |
| Novex-1 | 11760 | 35503;35504;35505 | chr2:178589627;178589626;178589625 | chr2:179454354;179454353;179454352 |
| Novex-2 | 11827 | 35704;35705;35706 | chr2:178589627;178589626;178589625 | chr2:179454354;179454353;179454352 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | rs151193056  |
-1.167 | 0.999 | N | 0.764 | 0.26 | None | gnomAD-2.1.1 | 8.24E-05 | None | None | None | None | N | None | 9.50806E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/D | rs151193056 |
-1.167 | 0.999 | N | 0.764 | 0.26 | None | gnomAD-3.1.2 | 2.23558E-04 | None | None | None | None | N | None | 8.20424E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/D | rs151193056 |
-1.167 | 0.999 | N | 0.764 | 0.26 | None | 1000 genomes | 5.99042E-04 | None | None | None | None | N | None | 2.3E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| N/D | rs151193056 |
-1.167 | 0.999 | N | 0.764 | 0.26 | None | gnomAD-4.0.0 | 3.59496E-05 | None | None | None | None | N | None | 7.46627E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.20154E-05 |
| N/K | rs997630345 |
-0.273 | 1.0 | N | 0.823 | 0.282 | 0.242244723065 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| N/K | rs997630345 |
-0.273 | 1.0 | N | 0.823 | 0.282 | 0.242244723065 | gnomAD-4.0.0 | 3.18449E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72023E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.6919 | likely_pathogenic | 0.6754 | pathogenic | -0.868 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| N/C | 0.3615 | ambiguous | 0.3789 | ambiguous | -0.445 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| N/D | 0.8793 | likely_pathogenic | 0.8545 | pathogenic | -1.832 | Destabilizing | 0.999 | D | 0.764 | deleterious | N | 0.488425254 | None | None | N |
| N/E | 0.9749 | likely_pathogenic | 0.9658 | pathogenic | -1.654 | Destabilizing | 0.999 | D | 0.814 | deleterious | None | None | None | None | N |
| N/F | 0.9235 | likely_pathogenic | 0.9298 | pathogenic | -0.535 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| N/G | 0.8619 | likely_pathogenic | 0.8743 | pathogenic | -1.23 | Destabilizing | 0.999 | D | 0.709 | prob.delet. | None | None | None | None | N |
| N/H | 0.6393 | likely_pathogenic | 0.6206 | pathogenic | -0.931 | Destabilizing | 1.0 | D | 0.784 | deleterious | N | 0.508840598 | None | None | N |
| N/I | 0.2765 | likely_benign | 0.2368 | benign | 0.071 | Stabilizing | 1.0 | D | 0.853 | deleterious | N | 0.36087687 | None | None | N |
| N/K | 0.9793 | likely_pathogenic | 0.9747 | pathogenic | -0.384 | Destabilizing | 1.0 | D | 0.823 | deleterious | N | 0.489985479 | None | None | N |
| N/L | 0.4792 | ambiguous | 0.4868 | ambiguous | 0.071 | Stabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| N/M | 0.7295 | likely_pathogenic | 0.7061 | pathogenic | 0.343 | Stabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| N/P | 0.6278 | likely_pathogenic | 0.6625 | pathogenic | -0.213 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| N/Q | 0.931 | likely_pathogenic | 0.9248 | pathogenic | -1.113 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| N/R | 0.9687 | likely_pathogenic | 0.9614 | pathogenic | -0.489 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| N/S | 0.2725 | likely_benign | 0.282 | benign | -1.188 | Destabilizing | 0.999 | D | 0.715 | prob.delet. | N | 0.489465404 | None | None | N |
| N/T | 0.4826 | ambiguous | 0.4382 | ambiguous | -0.837 | Destabilizing | 0.999 | D | 0.806 | deleterious | N | 0.470879643 | None | None | N |
| N/V | 0.2909 | likely_benign | 0.2548 | benign | -0.213 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| N/W | 0.9816 | likely_pathogenic | 0.9833 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| N/Y | 0.7089 | likely_pathogenic | 0.7078 | pathogenic | -0.096 | Destabilizing | 1.0 | D | 0.855 | deleterious | N | 0.507800448 | 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.