Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31938 | 96037;96038;96039 | chr2:178544417;178544416;178544415 | chr2:179409144;179409143;179409142 |
| N2AB | 30297 | 91114;91115;91116 | chr2:178544417;178544416;178544415 | chr2:179409144;179409143;179409142 |
| N2A | 29370 | 88333;88334;88335 | chr2:178544417;178544416;178544415 | chr2:179409144;179409143;179409142 |
| N2B | 22873 | 68842;68843;68844 | chr2:178544417;178544416;178544415 | chr2:179409144;179409143;179409142 |
| Novex-1 | 22998 | 69217;69218;69219 | chr2:178544417;178544416;178544415 | chr2:179409144;179409143;179409142 |
| Novex-2 | 23065 | 69418;69419;69420 | chr2:178544417;178544416;178544415 | chr2:179409144;179409143;179409142 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs747138440  |
-0.16 | 1.0 | N | 0.631 | 0.425 | 0.435479573448 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/A | rs747138440 |
-0.16 | 1.0 | N | 0.631 | 0.425 | 0.435479573448 | gnomAD-4.0.0 | 6.36568E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85887E-06 | 4.29824E-05 | 0 |
| G/S | rs1559132766 |
None | 1.0 | N | 0.721 | 0.46 | 0.448300063881 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| G/S | rs1559132766 |
None | 1.0 | N | 0.721 | 0.46 | 0.448300063881 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/S | rs1559132766 |
None | 1.0 | N | 0.721 | 0.46 | 0.448300063881 | gnomAD-4.0.0 | 2.5625E-06 | None | None | None | None | I | None | 0 | 1.69492E-05 | None | 0 | 0 | None | 0 | 0 | 2.39338E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6088 | likely_pathogenic | 0.5804 | pathogenic | -0.222 | Destabilizing | 1.0 | D | 0.631 | neutral | N | 0.491614131 | None | None | I |
| G/C | 0.6743 | likely_pathogenic | 0.6175 | pathogenic | -0.864 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.537737369 | None | None | I |
| G/D | 0.7827 | likely_pathogenic | 0.7307 | pathogenic | -0.407 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | N | 0.495741961 | None | None | I |
| G/E | 0.8254 | likely_pathogenic | 0.7696 | pathogenic | -0.572 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/F | 0.9396 | likely_pathogenic | 0.9264 | pathogenic | -0.977 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/H | 0.8849 | likely_pathogenic | 0.8563 | pathogenic | -0.36 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| G/I | 0.9157 | likely_pathogenic | 0.8951 | pathogenic | -0.43 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/K | 0.8967 | likely_pathogenic | 0.8492 | pathogenic | -0.622 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/L | 0.9073 | likely_pathogenic | 0.8869 | pathogenic | -0.43 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| G/M | 0.9157 | likely_pathogenic | 0.8985 | pathogenic | -0.509 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/N | 0.7317 | likely_pathogenic | 0.72 | pathogenic | -0.301 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | I |
| G/P | 0.9902 | likely_pathogenic | 0.9891 | pathogenic | -0.33 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| G/Q | 0.8252 | likely_pathogenic | 0.769 | pathogenic | -0.579 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/R | 0.8026 | likely_pathogenic | 0.7327 | pathogenic | -0.194 | Destabilizing | 1.0 | D | 0.815 | deleterious | N | 0.502009385 | None | None | I |
| G/S | 0.3674 | ambiguous | 0.3549 | ambiguous | -0.46 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | N | 0.504122525 | None | None | I |
| G/T | 0.7803 | likely_pathogenic | 0.7596 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/V | 0.8664 | likely_pathogenic | 0.8378 | pathogenic | -0.33 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.537737369 | None | None | I |
| G/W | 0.9133 | likely_pathogenic | 0.8924 | pathogenic | -1.099 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/Y | 0.8943 | likely_pathogenic | 0.8801 | pathogenic | -0.759 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
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.