Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4672 | 14239;14240;14241 | chr2:178739219;178739218;178739217 | chr2:179603946;179603945;179603944 |
| N2AB | 4355 | 13288;13289;13290 | chr2:178739219;178739218;178739217 | chr2:179603946;179603945;179603944 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 4309 | 13150;13151;13152 | chr2:178739219;178739218;178739217 | chr2:179603946;179603945;179603944 |
| Novex-1 | 4434 | 13525;13526;13527 | chr2:178739219;178739218;178739217 | chr2:179603946;179603945;179603944 |
| Novex-2 | 4501 | 13726;13727;13728 | chr2:178739219;178739218;178739217 | chr2:179603946;179603945;179603944 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/K | rs1553935908  |
None | 0.09 | N | 0.495 | 0.059 | None | gnomAD-4.0.0 | 5.10927E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.18943E-06 | 0 | 0 |
| Q/R | rs762907912 |
-0.193 | 0.193 | D | 0.5 | 0.184 | None | gnomAD-2.1.1 | 4.51E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.83E-06 | 0 |
| Q/R | rs762907912 |
-0.193 | 0.193 | D | 0.5 | 0.184 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Q/R | rs762907912 |
-0.193 | 0.193 | D | 0.5 | 0.184 | None | gnomAD-4.0.0 | 4.05914E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.60699E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2321 | likely_benign | 0.2533 | benign | -0.801 | Destabilizing | 0.116 | N | 0.445 | neutral | None | None | None | None | N |
| Q/C | 0.6125 | likely_pathogenic | 0.6889 | pathogenic | -0.21 | Destabilizing | 0.981 | D | 0.571 | neutral | None | None | None | None | N |
| Q/D | 0.4477 | ambiguous | 0.4995 | ambiguous | -0.551 | Destabilizing | 0.116 | N | 0.457 | neutral | None | None | None | None | N |
| Q/E | 0.0696 | likely_benign | 0.073 | benign | -0.442 | Destabilizing | None | N | 0.087 | neutral | N | 0.431333946 | None | None | N |
| Q/F | 0.764 | likely_pathogenic | 0.8155 | pathogenic | -0.466 | Destabilizing | 0.932 | D | 0.529 | neutral | None | None | None | None | N |
| Q/G | 0.2748 | likely_benign | 0.3013 | benign | -1.158 | Destabilizing | 0.388 | N | 0.493 | neutral | None | None | None | None | N |
| Q/H | 0.2944 | likely_benign | 0.328 | benign | -0.913 | Destabilizing | 0.773 | D | 0.467 | neutral | D | 0.547080895 | None | None | N |
| Q/I | 0.4601 | ambiguous | 0.5304 | ambiguous | 0.116 | Stabilizing | 0.818 | D | 0.546 | neutral | None | None | None | None | N |
| Q/K | 0.1202 | likely_benign | 0.1376 | benign | -0.299 | Destabilizing | 0.09 | N | 0.495 | neutral | N | 0.499551229 | None | None | N |
| Q/L | 0.2157 | likely_benign | 0.2735 | benign | 0.116 | Stabilizing | 0.324 | N | 0.504 | neutral | D | 0.545161623 | None | None | N |
| Q/M | 0.409 | ambiguous | 0.4531 | ambiguous | 0.522 | Stabilizing | 0.932 | D | 0.455 | neutral | None | None | None | None | N |
| Q/N | 0.4086 | ambiguous | 0.4389 | ambiguous | -0.868 | Destabilizing | 0.388 | N | 0.468 | neutral | None | None | None | None | N |
| Q/P | 0.472 | ambiguous | 0.5344 | ambiguous | -0.159 | Destabilizing | 0.773 | D | 0.514 | neutral | D | 0.613490777 | None | None | N |
| Q/R | 0.1249 | likely_benign | 0.1474 | benign | -0.221 | Destabilizing | 0.193 | N | 0.5 | neutral | D | 0.528298738 | None | None | N |
| Q/S | 0.2908 | likely_benign | 0.3036 | benign | -1.046 | Destabilizing | 0.116 | N | 0.446 | neutral | None | None | None | None | N |
| Q/T | 0.2453 | likely_benign | 0.2765 | benign | -0.738 | Destabilizing | 0.388 | N | 0.475 | neutral | None | None | None | None | N |
| Q/V | 0.3203 | likely_benign | 0.3875 | ambiguous | -0.159 | Destabilizing | 0.388 | N | 0.509 | neutral | None | None | None | None | N |
| Q/W | 0.6523 | likely_pathogenic | 0.7263 | pathogenic | -0.277 | Destabilizing | 0.981 | D | 0.559 | neutral | None | None | None | None | N |
| Q/Y | 0.5846 | likely_pathogenic | 0.6632 | pathogenic | -0.06 | Destabilizing | 0.932 | D | 0.518 | neutral | 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.