Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29376 | 88351;88352;88353 | chr2:178557028;178557027;178557026 | chr2:179421755;179421754;179421753 |
| N2AB | 27735 | 83428;83429;83430 | chr2:178557028;178557027;178557026 | chr2:179421755;179421754;179421753 |
| N2A | 26808 | 80647;80648;80649 | chr2:178557028;178557027;178557026 | chr2:179421755;179421754;179421753 |
| N2B | 20311 | 61156;61157;61158 | chr2:178557028;178557027;178557026 | chr2:179421755;179421754;179421753 |
| Novex-1 | 20436 | 61531;61532;61533 | chr2:178557028;178557027;178557026 | chr2:179421755;179421754;179421753 |
| Novex-2 | 20503 | 61732;61733;61734 | chr2:178557028;178557027;178557026 | chr2:179421755;179421754;179421753 |
| 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/E | rs1294808969  |
None | 0.767 | N | 0.175 | 0.111 | 0.329282125956 | gnomAD-4.0.0 | 1.36846E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79888E-06 | 0 | 0 |
| D/V | None | None | 0.999 | N | 0.819 | 0.401 | 0.588051273532 | gnomAD-4.0.0 | 1.59138E-06 | None | None | None | None | N | None | 0 | 2.28634E-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 | 0.3172 | likely_benign | 0.2427 | benign | -0.609 | Destabilizing | 0.996 | D | 0.636 | neutral | N | 0.471266653 | None | None | N |
| D/C | 0.7508 | likely_pathogenic | 0.6758 | pathogenic | -0.36 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| D/E | 0.1981 | likely_benign | 0.1774 | benign | -0.807 | Destabilizing | 0.767 | D | 0.175 | neutral | N | 0.402422422 | None | None | N |
| D/F | 0.7646 | likely_pathogenic | 0.6634 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| D/G | 0.3872 | ambiguous | 0.3022 | benign | -0.982 | Destabilizing | 0.998 | D | 0.641 | neutral | N | 0.510784825 | None | None | N |
| D/H | 0.5003 | ambiguous | 0.4212 | ambiguous | -0.802 | Destabilizing | 1.0 | D | 0.792 | deleterious | N | 0.505362022 | None | None | N |
| D/I | 0.4637 | ambiguous | 0.3761 | ambiguous | 0.383 | Stabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| D/K | 0.6252 | likely_pathogenic | 0.543 | ambiguous | -0.687 | Destabilizing | 0.999 | D | 0.702 | prob.neutral | None | None | None | None | N |
| D/L | 0.492 | ambiguous | 0.4094 | ambiguous | 0.383 | Stabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| D/M | 0.7052 | likely_pathogenic | 0.6262 | pathogenic | 0.879 | Stabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| D/N | 0.1649 | likely_benign | 0.1353 | benign | -1.008 | Destabilizing | 0.999 | D | 0.669 | neutral | D | 0.524098052 | None | None | N |
| D/P | 0.7379 | likely_pathogenic | 0.6648 | pathogenic | 0.078 | Stabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| D/Q | 0.4925 | ambiguous | 0.4348 | ambiguous | -0.847 | Destabilizing | 0.999 | D | 0.759 | deleterious | None | None | None | None | N |
| D/R | 0.6795 | likely_pathogenic | 0.6101 | pathogenic | -0.611 | Destabilizing | 0.999 | D | 0.805 | deleterious | None | None | None | None | N |
| D/S | 0.236 | likely_benign | 0.1886 | benign | -1.37 | Destabilizing | 0.997 | D | 0.579 | neutral | None | None | None | None | N |
| D/T | 0.4189 | ambiguous | 0.3425 | ambiguous | -1.06 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| D/V | 0.2976 | likely_benign | 0.2374 | benign | 0.078 | Stabilizing | 0.999 | D | 0.819 | deleterious | N | 0.477382719 | None | None | N |
| D/W | 0.9484 | likely_pathogenic | 0.9195 | pathogenic | -0.292 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| D/Y | 0.3981 | ambiguous | 0.3147 | benign | -0.149 | Destabilizing | 1.0 | D | 0.805 | deleterious | N | 0.51789687 | 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.