Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6643 | 20152;20153;20154 | chr2:178727651;178727650;178727649 | chr2:179592378;179592377;179592376 |
| N2AB | 6326 | 19201;19202;19203 | chr2:178727651;178727650;178727649 | chr2:179592378;179592377;179592376 |
| N2A | 5399 | 16420;16421;16422 | chr2:178727651;178727650;178727649 | chr2:179592378;179592377;179592376 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | None | None | None | N | 0.113 | 0.184 | 0.165133752707 | gnomAD-4.0.0 | 1.59555E-06 | None | None | None | None | N | None | 0 | 2.29589E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/H | None | None | None | N | 0.117 | 0.191 | 0.0401082797425 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| Q/R | rs1399714010  |
0.203 | None | N | 0.122 | 0.134 | 0.137902524267 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| Q/R | rs1399714010 |
0.203 | None | N | 0.122 | 0.134 | 0.137902524267 | gnomAD-4.0.0 | 4.1136E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.40256E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.1682 | likely_benign | 0.1756 | benign | -0.527 | Destabilizing | 0.019 | N | 0.274 | neutral | None | None | None | None | N |
| Q/C | 0.4142 | ambiguous | 0.4302 | ambiguous | 0.089 | Stabilizing | 0.616 | D | 0.509 | neutral | None | None | None | None | N |
| Q/D | 0.2355 | likely_benign | 0.2577 | benign | -0.716 | Destabilizing | 0.015 | N | 0.31 | neutral | None | None | None | None | N |
| Q/E | 0.0728 | likely_benign | 0.0759 | benign | -0.678 | Destabilizing | None | N | 0.113 | neutral | N | 0.405919379 | None | None | N |
| Q/F | 0.4243 | ambiguous | 0.4189 | ambiguous | -0.56 | Destabilizing | 0.121 | N | 0.577 | neutral | None | None | None | None | N |
| Q/G | 0.2141 | likely_benign | 0.2358 | benign | -0.813 | Destabilizing | 0.092 | N | 0.323 | neutral | None | None | None | None | N |
| Q/H | 0.1117 | likely_benign | 0.115 | benign | -0.919 | Destabilizing | None | N | 0.117 | neutral | N | 0.507123737 | None | None | N |
| Q/I | 0.2364 | likely_benign | 0.2231 | benign | 0.173 | Stabilizing | 0.02 | N | 0.394 | neutral | None | None | None | None | N |
| Q/K | 0.0758 | likely_benign | 0.0808 | benign | -0.141 | Destabilizing | 0.007 | N | 0.271 | neutral | N | 0.455961411 | None | None | N |
| Q/L | 0.0968 | likely_benign | 0.0955 | benign | 0.173 | Stabilizing | 0.007 | N | 0.319 | neutral | N | 0.491692924 | None | None | N |
| Q/M | 0.2762 | likely_benign | 0.2736 | benign | 0.765 | Stabilizing | 0.411 | N | 0.415 | neutral | None | None | None | None | N |
| Q/N | 0.1536 | likely_benign | 0.1575 | benign | -0.6 | Destabilizing | 0.015 | N | 0.341 | neutral | None | None | None | None | N |
| Q/P | 0.1044 | likely_benign | 0.1195 | benign | -0.03 | Destabilizing | 0.102 | N | 0.445 | neutral | D | 0.524669347 | None | None | N |
| Q/R | 0.079 | likely_benign | 0.0893 | benign | -0.043 | Destabilizing | None | N | 0.122 | neutral | N | 0.415579012 | None | None | N |
| Q/S | 0.1694 | likely_benign | 0.1829 | benign | -0.642 | Destabilizing | 0.022 | N | 0.255 | neutral | None | None | None | None | N |
| Q/T | 0.1446 | likely_benign | 0.1509 | benign | -0.425 | Destabilizing | None | N | 0.198 | neutral | None | None | None | None | N |
| Q/V | 0.1725 | likely_benign | 0.172 | benign | -0.03 | Destabilizing | None | N | 0.245 | neutral | None | None | None | None | N |
| Q/W | 0.2972 | likely_benign | 0.3279 | benign | -0.461 | Destabilizing | 0.968 | D | 0.513 | neutral | None | None | None | None | N |
| Q/Y | 0.2335 | likely_benign | 0.2379 | benign | -0.192 | Destabilizing | 0.064 | N | 0.466 | neutral | None | None | 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.