Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7174 | 21745;21746;21747 | chr2:178723580;178723579;178723578 | chr2:179588307;179588306;179588305 |
| N2AB | 6857 | 20794;20795;20796 | chr2:178723580;178723579;178723578 | chr2:179588307;179588306;179588305 |
| N2A | 5930 | 18013;18014;18015 | chr2:178723580;178723579;178723578 | chr2:179588307;179588306;179588305 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/V | rs764832849  |
-0.13 | 0.012 | N | 0.159 | 0.069 | 0.235664433957 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 1.66611E-04 |
| A/V | rs764832849 |
-0.13 | 0.012 | N | 0.159 | 0.069 | 0.235664433957 | gnomAD-3.1.2 | 5.92E-05 | None | None | None | None | N | None | 0 | 3.93649E-04 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| A/V | rs764832849 |
-0.13 | 0.012 | N | 0.159 | 0.069 | 0.235664433957 | gnomAD-4.0.0 | 1.61169E-05 | None | None | None | None | N | None | 0 | 1.50175E-04 | None | 0 | 0 | None | 0 | 0 | 1.44119E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4527 | ambiguous | 0.513 | ambiguous | -0.945 | Destabilizing | 0.998 | D | 0.298 | neutral | None | None | None | None | N |
| A/D | 0.1361 | likely_benign | 0.1549 | benign | -0.344 | Destabilizing | 0.012 | N | 0.215 | neutral | N | 0.377475544 | None | None | N |
| A/E | 0.1391 | likely_benign | 0.1591 | benign | -0.463 | Destabilizing | 0.525 | D | 0.298 | neutral | None | None | None | None | N |
| A/F | 0.2245 | likely_benign | 0.2619 | benign | -0.828 | Destabilizing | 0.949 | D | 0.392 | neutral | None | None | None | None | N |
| A/G | 0.0965 | likely_benign | 0.1058 | benign | -0.361 | Destabilizing | 0.454 | N | 0.243 | neutral | N | 0.353494246 | None | None | N |
| A/H | 0.3317 | likely_benign | 0.3823 | ambiguous | -0.165 | Destabilizing | 0.974 | D | 0.38 | neutral | None | None | None | None | N |
| A/I | 0.1668 | likely_benign | 0.1987 | benign | -0.405 | Destabilizing | 0.728 | D | 0.391 | neutral | None | None | None | None | N |
| A/K | 0.2522 | likely_benign | 0.3001 | benign | -0.6 | Destabilizing | 0.067 | N | 0.197 | neutral | None | None | None | None | N |
| A/L | 0.1356 | likely_benign | 0.1571 | benign | -0.405 | Destabilizing | 0.728 | D | 0.304 | neutral | None | None | None | None | N |
| A/M | 0.1688 | likely_benign | 0.1978 | benign | -0.728 | Destabilizing | 0.974 | D | 0.33 | neutral | None | None | None | None | N |
| A/N | 0.1253 | likely_benign | 0.1414 | benign | -0.414 | Destabilizing | 0.842 | D | 0.423 | neutral | None | None | None | None | N |
| A/P | 0.1175 | likely_benign | 0.1325 | benign | -0.352 | Destabilizing | 0.966 | D | 0.385 | neutral | N | 0.459363422 | None | None | N |
| A/Q | 0.2121 | likely_benign | 0.2416 | benign | -0.598 | Destabilizing | 0.325 | N | 0.183 | neutral | None | None | None | None | N |
| A/R | 0.2323 | likely_benign | 0.279 | benign | -0.203 | Destabilizing | 0.728 | D | 0.391 | neutral | None | None | None | None | N |
| A/S | 0.069 | likely_benign | 0.0706 | benign | -0.649 | Destabilizing | 0.022 | N | 0.123 | neutral | N | 0.36316224 | None | None | N |
| A/T | 0.0722 | likely_benign | 0.0777 | benign | -0.682 | Destabilizing | 0.669 | D | 0.229 | neutral | N | 0.41843952 | None | None | N |
| A/V | 0.0996 | likely_benign | 0.1149 | benign | -0.352 | Destabilizing | 0.012 | N | 0.159 | neutral | N | 0.4782959 | None | None | N |
| A/W | 0.5509 | ambiguous | 0.6195 | pathogenic | -0.939 | Destabilizing | 0.998 | D | 0.489 | neutral | None | None | None | None | N |
| A/Y | 0.3399 | likely_benign | 0.388 | ambiguous | -0.636 | Destabilizing | 0.974 | D | 0.391 | 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.