Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29228 | 87907;87908;87909 | chr2:178557672;178557671;178557670 | chr2:179422399;179422398;179422397 |
| N2AB | 27587 | 82984;82985;82986 | chr2:178557672;178557671;178557670 | chr2:179422399;179422398;179422397 |
| N2A | 26660 | 80203;80204;80205 | chr2:178557672;178557671;178557670 | chr2:179422399;179422398;179422397 |
| N2B | 20163 | 60712;60713;60714 | chr2:178557672;178557671;178557670 | chr2:179422399;179422398;179422397 |
| Novex-1 | 20288 | 61087;61088;61089 | chr2:178557672;178557671;178557670 | chr2:179422399;179422398;179422397 |
| Novex-2 | 20355 | 61288;61289;61290 | chr2:178557672;178557671;178557670 | chr2:179422399;179422398;179422397 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | rs1488529314  |
0.718 | 0.167 | N | 0.587 | 0.214 | 0.522717468363 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| C/R | rs1488529314 |
0.718 | 0.167 | N | 0.587 | 0.214 | 0.522717468363 | gnomAD-4.0.0 | 1.59133E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.77239E-05 | None | 0 | 0 | 0 | 0 | 0 |
| C/S | rs1250215219 |
0.466 | 0.02 | N | 0.299 | 0.213 | 0.460438652622 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | I | None | 0 | 5.81E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/S | rs1250215219 |
0.466 | 0.02 | N | 0.299 | 0.213 | 0.460438652622 | gnomAD-4.0.0 | 1.36844E-06 | None | None | None | None | I | None | 0 | 4.47487E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/Y | None | None | None | N | 0.207 | 0.284 | 0.490771696789 | gnomAD-4.0.0 | 6.84222E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99437E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.1365 | likely_benign | 0.1526 | benign | -0.795 | Destabilizing | 0.001 | N | 0.073 | neutral | None | None | None | None | I |
| C/D | 0.3794 | ambiguous | 0.4138 | ambiguous | 0.547 | Stabilizing | 0.209 | N | 0.537 | neutral | None | None | None | None | I |
| C/E | 0.4849 | ambiguous | 0.5284 | ambiguous | 0.539 | Stabilizing | 0.116 | N | 0.475 | neutral | None | None | None | None | I |
| C/F | 0.1263 | likely_benign | 0.1547 | benign | -0.626 | Destabilizing | 0.047 | N | 0.583 | neutral | N | 0.433646619 | None | None | I |
| C/G | 0.1 | likely_benign | 0.1044 | benign | -0.975 | Destabilizing | 0.039 | N | 0.306 | neutral | N | 0.434166694 | None | None | I |
| C/H | 0.2633 | likely_benign | 0.3015 | benign | -0.955 | Destabilizing | None | N | 0.219 | neutral | None | None | None | None | I |
| C/I | 0.2436 | likely_benign | 0.2972 | benign | -0.4 | Destabilizing | 0.116 | N | 0.513 | neutral | None | None | None | None | I |
| C/K | 0.4458 | ambiguous | 0.4971 | ambiguous | 0.024 | Stabilizing | 0.116 | N | 0.473 | neutral | None | None | None | None | I |
| C/L | 0.2377 | likely_benign | 0.2746 | benign | -0.4 | Destabilizing | 0.026 | N | 0.303 | neutral | None | None | None | None | I |
| C/M | 0.3863 | ambiguous | 0.4296 | ambiguous | 0.039 | Stabilizing | 0.482 | N | 0.421 | neutral | None | None | None | None | I |
| C/N | 0.2136 | likely_benign | 0.2307 | benign | 0.294 | Stabilizing | 0.116 | N | 0.539 | neutral | None | None | None | None | I |
| C/P | 0.1779 | likely_benign | 0.1983 | benign | -0.506 | Destabilizing | None | N | 0.225 | neutral | None | None | None | None | I |
| C/Q | 0.3247 | likely_benign | 0.3641 | ambiguous | 0.188 | Stabilizing | 0.209 | N | 0.611 | neutral | None | None | None | None | I |
| C/R | 0.2043 | likely_benign | 0.2276 | benign | 0.283 | Stabilizing | 0.167 | N | 0.587 | neutral | N | 0.399976763 | None | None | I |
| C/S | 0.1102 | likely_benign | 0.1222 | benign | -0.214 | Destabilizing | 0.02 | N | 0.299 | neutral | N | 0.363823962 | None | None | I |
| C/T | 0.1882 | likely_benign | 0.2097 | benign | -0.076 | Destabilizing | 0.001 | N | 0.147 | neutral | None | None | None | None | I |
| C/V | 0.1995 | likely_benign | 0.2296 | benign | -0.506 | Destabilizing | 0.051 | N | 0.273 | neutral | None | None | None | None | I |
| C/W | 0.3354 | likely_benign | 0.365 | ambiguous | -0.57 | Destabilizing | 0.726 | D | 0.436 | neutral | N | 0.45223238 | None | None | I |
| C/Y | 0.1672 | likely_benign | 0.2001 | benign | -0.461 | Destabilizing | None | N | 0.207 | neutral | N | 0.422429548 | 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.