Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8094 | 24505;24506;24507 | chr2:178718920;178718919;178718918 | chr2:179583647;179583646;179583645 |
| N2AB | 7777 | 23554;23555;23556 | chr2:178718920;178718919;178718918 | chr2:179583647;179583646;179583645 |
| N2A | 6850 | 20773;20774;20775 | chr2:178718920;178718919;178718918 | chr2:179583647;179583646;179583645 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs574161330  |
-0.406 | 0.002 | N | 0.104 | 0.131 | 0.0482279557977 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.63E-05 | None | 0 | None | 0 | 0 | 0 |
| S/N | rs574161330 |
-0.406 | 0.002 | N | 0.104 | 0.131 | 0.0482279557977 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93498E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | rs574161330 |
-0.406 | 0.002 | N | 0.104 | 0.131 | 0.0482279557977 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| S/N | rs574161330 |
-0.406 | 0.002 | N | 0.104 | 0.131 | 0.0482279557977 | gnomAD-4.0.0 | 6.5716E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.93949E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1036 | likely_benign | 0.1105 | benign | -0.497 | Destabilizing | 0.4 | N | 0.359 | neutral | None | None | None | None | N |
| S/C | 0.1937 | likely_benign | 0.2133 | benign | -0.307 | Destabilizing | 0.99 | D | 0.371 | neutral | N | 0.469938936 | None | None | N |
| S/D | 0.2251 | likely_benign | 0.2417 | benign | 0.522 | Stabilizing | 0.447 | N | 0.313 | neutral | None | None | None | None | N |
| S/E | 0.376 | ambiguous | 0.4161 | ambiguous | 0.497 | Stabilizing | 0.4 | N | 0.317 | neutral | None | None | None | None | N |
| S/F | 0.2716 | likely_benign | 0.3088 | benign | -0.85 | Destabilizing | 0.972 | D | 0.451 | neutral | None | None | None | None | N |
| S/G | 0.0953 | likely_benign | 0.0927 | benign | -0.702 | Destabilizing | 0.201 | N | 0.355 | neutral | N | 0.487029233 | None | None | N |
| S/H | 0.2362 | likely_benign | 0.2556 | benign | -1.104 | Destabilizing | 0.85 | D | 0.388 | neutral | None | None | None | None | N |
| S/I | 0.1928 | likely_benign | 0.2125 | benign | -0.075 | Destabilizing | 0.81 | D | 0.444 | neutral | N | 0.464823601 | None | None | N |
| S/K | 0.3745 | ambiguous | 0.4217 | ambiguous | -0.319 | Destabilizing | 0.021 | N | 0.158 | neutral | None | None | None | None | N |
| S/L | 0.1466 | likely_benign | 0.1626 | benign | -0.075 | Destabilizing | 0.617 | D | 0.44 | neutral | None | None | None | None | N |
| S/M | 0.2347 | likely_benign | 0.2562 | benign | -0.002 | Destabilizing | 0.972 | D | 0.383 | neutral | None | None | None | None | N |
| S/N | 0.0783 | likely_benign | 0.0832 | benign | -0.218 | Destabilizing | 0.002 | N | 0.104 | neutral | N | 0.415863361 | None | None | N |
| S/P | 0.1295 | likely_benign | 0.1585 | benign | -0.183 | Destabilizing | 0.92 | D | 0.39 | neutral | None | None | None | None | N |
| S/Q | 0.3508 | ambiguous | 0.3742 | ambiguous | -0.317 | Destabilizing | 0.617 | D | 0.361 | neutral | None | None | None | None | N |
| S/R | 0.3349 | likely_benign | 0.3628 | ambiguous | -0.261 | Destabilizing | 0.379 | N | 0.395 | neutral | N | 0.494036143 | None | None | N |
| S/T | 0.0838 | likely_benign | 0.09 | benign | -0.303 | Destabilizing | 0.007 | N | 0.093 | neutral | N | 0.427675078 | None | None | N |
| S/V | 0.2282 | likely_benign | 0.2587 | benign | -0.183 | Destabilizing | 0.617 | D | 0.413 | neutral | None | None | None | None | N |
| S/W | 0.3865 | ambiguous | 0.4121 | ambiguous | -0.854 | Destabilizing | 0.992 | D | 0.55 | neutral | None | None | None | None | N |
| S/Y | 0.1955 | likely_benign | 0.2285 | benign | -0.553 | Destabilizing | 0.972 | D | 0.451 | 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.