Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29280 | 88063;88064;88065 | chr2:178557424;178557423;178557422 | chr2:179422151;179422150;179422149 |
| N2AB | 27639 | 83140;83141;83142 | chr2:178557424;178557423;178557422 | chr2:179422151;179422150;179422149 |
| N2A | 26712 | 80359;80360;80361 | chr2:178557424;178557423;178557422 | chr2:179422151;179422150;179422149 |
| N2B | 20215 | 60868;60869;60870 | chr2:178557424;178557423;178557422 | chr2:179422151;179422150;179422149 |
| Novex-1 | 20340 | 61243;61244;61245 | chr2:178557424;178557423;178557422 | chr2:179422151;179422150;179422149 |
| Novex-2 | 20407 | 61444;61445;61446 | chr2:178557424;178557423;178557422 | chr2:179422151;179422150;179422149 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/K | rs762015851  |
0.49 | 1.0 | N | 0.59 | 0.415 | 0.21737058555 | gnomAD-2.1.1 | 6.37E-05 | None | None | None | None | I | None | 2.29621E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/K | rs762015851 |
0.49 | 1.0 | N | 0.59 | 0.415 | 0.21737058555 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/K | rs762015851 |
0.49 | 1.0 | N | 0.59 | 0.415 | 0.21737058555 | gnomAD-4.0.0 | 1.97034E-05 | None | None | None | None | I | None | 4.81232E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.4702E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.7709 | likely_pathogenic | 0.8008 | pathogenic | -0.161 | Destabilizing | 1.0 | D | 0.555 | neutral | None | None | None | None | I |
| N/C | 0.6843 | likely_pathogenic | 0.755 | pathogenic | 0.275 | Stabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | I |
| N/D | 0.7137 | likely_pathogenic | 0.7691 | pathogenic | 0.239 | Stabilizing | 0.999 | D | 0.579 | neutral | N | 0.497143524 | None | None | I |
| N/E | 0.9294 | likely_pathogenic | 0.9462 | pathogenic | 0.185 | Stabilizing | 0.999 | D | 0.577 | neutral | None | None | None | None | I |
| N/F | 0.9269 | likely_pathogenic | 0.9417 | pathogenic | -0.74 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | I |
| N/G | 0.6615 | likely_pathogenic | 0.6983 | pathogenic | -0.272 | Destabilizing | 0.999 | D | 0.52 | neutral | None | None | None | None | I |
| N/H | 0.3401 | ambiguous | 0.392 | ambiguous | -0.331 | Destabilizing | 1.0 | D | 0.621 | neutral | N | 0.484730234 | None | None | I |
| N/I | 0.8486 | likely_pathogenic | 0.8861 | pathogenic | 0.032 | Stabilizing | 1.0 | D | 0.689 | prob.neutral | N | 0.498973375 | None | None | I |
| N/K | 0.88 | likely_pathogenic | 0.9189 | pathogenic | 0.219 | Stabilizing | 1.0 | D | 0.59 | neutral | N | 0.509016743 | None | None | I |
| N/L | 0.7117 | likely_pathogenic | 0.7567 | pathogenic | 0.032 | Stabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | I |
| N/M | 0.818 | likely_pathogenic | 0.8402 | pathogenic | 0.217 | Stabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | I |
| N/P | 0.9409 | likely_pathogenic | 0.9622 | pathogenic | -0.008 | Destabilizing | 1.0 | D | 0.642 | neutral | None | None | None | None | I |
| N/Q | 0.8166 | likely_pathogenic | 0.8453 | pathogenic | -0.187 | Destabilizing | 1.0 | D | 0.612 | neutral | None | None | None | None | I |
| N/R | 0.8573 | likely_pathogenic | 0.9049 | pathogenic | 0.254 | Stabilizing | 1.0 | D | 0.625 | neutral | None | None | None | None | I |
| N/S | 0.2221 | likely_benign | 0.2375 | benign | 0.019 | Stabilizing | 0.999 | D | 0.525 | neutral | N | 0.469708994 | None | None | I |
| N/T | 0.525 | ambiguous | 0.5598 | ambiguous | 0.093 | Stabilizing | 0.999 | D | 0.573 | neutral | N | 0.501474696 | None | None | I |
| N/V | 0.8305 | likely_pathogenic | 0.8709 | pathogenic | -0.008 | Destabilizing | 1.0 | D | 0.674 | neutral | None | None | None | None | I |
| N/W | 0.9679 | likely_pathogenic | 0.9777 | pathogenic | -0.834 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | I |
| N/Y | 0.5655 | likely_pathogenic | 0.6133 | pathogenic | -0.511 | Destabilizing | 1.0 | D | 0.644 | neutral | N | 0.494200435 | 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.