Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2225 | 6898;6899;6900 | chr2:178775038;178775037;178775036 | chr2:179639765;179639764;179639763 |
| N2AB | 2225 | 6898;6899;6900 | chr2:178775038;178775037;178775036 | chr2:179639765;179639764;179639763 |
| N2A | 2225 | 6898;6899;6900 | chr2:178775038;178775037;178775036 | chr2:179639765;179639764;179639763 |
| N2B | 2179 | 6760;6761;6762 | chr2:178775038;178775037;178775036 | chr2:179639765;179639764;179639763 |
| Novex-1 | 2179 | 6760;6761;6762 | chr2:178775038;178775037;178775036 | chr2:179639765;179639764;179639763 |
| Novex-2 | 2179 | 6760;6761;6762 | chr2:178775038;178775037;178775036 | chr2:179639765;179639764;179639763 |
| Novex-3 | 2225 | 6898;6899;6900 | chr2:178775038;178775037;178775036 | chr2:179639765;179639764;179639763 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | None | None | 1.0 | D | 0.617 | 0.458 | 0.36036328697 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.8314 | likely_pathogenic | 0.814 | pathogenic | -0.201 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | D | 0.663514858 | None | None | N |
| D/C | 0.9876 | likely_pathogenic | 0.986 | pathogenic | -0.167 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| D/E | 0.7457 | likely_pathogenic | 0.7178 | pathogenic | -0.263 | Destabilizing | 1.0 | D | 0.407 | neutral | N | 0.501486827 | None | None | N |
| D/F | 0.9619 | likely_pathogenic | 0.9563 | pathogenic | 0.119 | Stabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| D/G | 0.8394 | likely_pathogenic | 0.8269 | pathogenic | -0.426 | Destabilizing | 1.0 | D | 0.66 | neutral | D | 0.566355013 | None | None | N |
| D/H | 0.9012 | likely_pathogenic | 0.8949 | pathogenic | 0.453 | Stabilizing | 1.0 | D | 0.651 | neutral | D | 0.666653052 | None | None | N |
| D/I | 0.9421 | likely_pathogenic | 0.9336 | pathogenic | 0.352 | Stabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| D/K | 0.9455 | likely_pathogenic | 0.9447 | pathogenic | 0.354 | Stabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| D/L | 0.9168 | likely_pathogenic | 0.9091 | pathogenic | 0.352 | Stabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| D/M | 0.9778 | likely_pathogenic | 0.9739 | pathogenic | 0.297 | Stabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| D/N | 0.5048 | ambiguous | 0.487 | ambiguous | -0.2 | Destabilizing | 1.0 | D | 0.617 | neutral | D | 0.5431021 | None | None | N |
| D/P | 0.9918 | likely_pathogenic | 0.9919 | pathogenic | 0.19 | Stabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| D/Q | 0.9241 | likely_pathogenic | 0.9186 | pathogenic | -0.105 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| D/R | 0.938 | likely_pathogenic | 0.9349 | pathogenic | 0.643 | Stabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| D/S | 0.6359 | likely_pathogenic | 0.6157 | pathogenic | -0.278 | Destabilizing | 1.0 | D | 0.632 | neutral | None | None | None | None | N |
| D/T | 0.8931 | likely_pathogenic | 0.8831 | pathogenic | -0.081 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| D/V | 0.8642 | likely_pathogenic | 0.8502 | pathogenic | 0.19 | Stabilizing | 1.0 | D | 0.756 | deleterious | D | 0.541866257 | None | None | N |
| D/W | 0.9935 | likely_pathogenic | 0.993 | pathogenic | 0.308 | Stabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| D/Y | 0.8388 | likely_pathogenic | 0.831 | pathogenic | 0.38 | Stabilizing | 1.0 | D | 0.699 | prob.neutral | D | 0.666756849 | 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.