Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16495 | 49708;49709;49710 | chr2:178613800;178613799;178613798 | chr2:179478527;179478526;179478525 |
| N2AB | 14854 | 44785;44786;44787 | chr2:178613800;178613799;178613798 | chr2:179478527;179478526;179478525 |
| N2A | 13927 | 42004;42005;42006 | chr2:178613800;178613799;178613798 | chr2:179478527;179478526;179478525 |
| N2B | 7430 | 22513;22514;22515 | chr2:178613800;178613799;178613798 | chr2:179478527;179478526;179478525 |
| Novex-1 | 7555 | 22888;22889;22890 | chr2:178613800;178613799;178613798 | chr2:179478527;179478526;179478525 |
| Novex-2 | 7622 | 23089;23090;23091 | chr2:178613800;178613799;178613798 | chr2:179478527;179478526;179478525 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/H | rs1424817630  |
0.647 | 1.0 | N | 0.57 | 0.383 | 0.344017737713 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 8.7E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/H | rs1424817630 |
0.647 | 1.0 | N | 0.57 | 0.383 | 0.344017737713 | gnomAD-4.0.0 | 4.78123E-06 | None | None | None | None | N | None | 0 | 6.86373E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.2229 | likely_benign | 0.2094 | benign | -0.425 | Destabilizing | 0.955 | D | 0.464 | neutral | N | 0.476804311 | None | None | N |
| D/C | 0.6629 | likely_pathogenic | 0.6421 | pathogenic | -0.125 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | N |
| D/E | 0.134 | likely_benign | 0.1263 | benign | -0.442 | Destabilizing | 0.989 | D | 0.423 | neutral | N | 0.446892403 | None | None | N |
| D/F | 0.7721 | likely_pathogenic | 0.7586 | pathogenic | -0.302 | Destabilizing | 1.0 | D | 0.62 | neutral | None | None | None | None | N |
| D/G | 0.121 | likely_benign | 0.1333 | benign | -0.662 | Destabilizing | 0.053 | N | 0.355 | neutral | N | 0.430943483 | None | None | N |
| D/H | 0.4219 | ambiguous | 0.4113 | ambiguous | -0.291 | Destabilizing | 1.0 | D | 0.57 | neutral | N | 0.469108851 | None | None | N |
| D/I | 0.5863 | likely_pathogenic | 0.5489 | ambiguous | 0.165 | Stabilizing | 0.999 | D | 0.627 | neutral | None | None | None | None | N |
| D/K | 0.3663 | ambiguous | 0.37 | ambiguous | -0.109 | Destabilizing | 0.998 | D | 0.543 | neutral | None | None | None | None | N |
| D/L | 0.4633 | ambiguous | 0.4302 | ambiguous | 0.165 | Stabilizing | 0.998 | D | 0.611 | neutral | None | None | None | None | N |
| D/M | 0.6401 | likely_pathogenic | 0.6072 | pathogenic | 0.367 | Stabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | N |
| D/N | 0.1038 | likely_benign | 0.1071 | benign | -0.346 | Destabilizing | 0.993 | D | 0.473 | neutral | N | 0.457794581 | None | None | N |
| D/P | 0.7089 | likely_pathogenic | 0.6763 | pathogenic | -0.009 | Destabilizing | 0.999 | D | 0.529 | neutral | None | None | None | None | N |
| D/Q | 0.3325 | likely_benign | 0.3108 | benign | -0.283 | Destabilizing | 0.999 | D | 0.527 | neutral | None | None | None | None | N |
| D/R | 0.4738 | ambiguous | 0.4698 | ambiguous | 0.109 | Stabilizing | 0.998 | D | 0.567 | neutral | None | None | None | None | N |
| D/S | 0.1423 | likely_benign | 0.1405 | benign | -0.498 | Destabilizing | 0.983 | D | 0.443 | neutral | None | None | None | None | N |
| D/T | 0.3126 | likely_benign | 0.2893 | benign | -0.319 | Destabilizing | 0.998 | D | 0.54 | neutral | None | None | None | None | N |
| D/V | 0.3985 | ambiguous | 0.3674 | ambiguous | -0.009 | Destabilizing | 0.997 | D | 0.607 | neutral | N | 0.480111233 | None | None | N |
| D/W | 0.9163 | likely_pathogenic | 0.9046 | pathogenic | -0.169 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| D/Y | 0.4136 | ambiguous | 0.4023 | ambiguous | -0.086 | Destabilizing | 1.0 | D | 0.623 | neutral | N | 0.464171109 | 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.