Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7036 | 21331;21332;21333 | chr2:178724269;178724268;178724267 | chr2:179588996;179588995;179588994 |
| N2AB | 6719 | 20380;20381;20382 | chr2:178724269;178724268;178724267 | chr2:179588996;179588995;179588994 |
| N2A | 5792 | 17599;17600;17601 | chr2:178724269;178724268;178724267 | chr2:179588996;179588995;179588994 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | None | None | 0.09 | N | 0.439 | 0.215 | 0.308278614506 | gnomAD-4.0.0 | 6.85038E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00273E-07 | 0 | 0 |
| D/G | rs767695386  |
-0.651 | 0.324 | N | 0.396 | 0.233 | 0.295623431141 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.67392E-04 |
| D/N | rs72648962 |
-0.05 | 0.324 | N | 0.337 | 0.228 | None | gnomAD-2.1.1 | 5.53642E-03 | None | None | None | None | N | None | 5.34161E-02 | 3.0736E-03 | None | 5.45915E-03 | 0 | None | 1.6456E-04 | None | 0 | 4.86702E-04 | 3.11262E-03 |
| D/N | rs72648962 |
-0.05 | 0.324 | N | 0.337 | 0.228 | None | gnomAD-3.1.2 | 1.57967E-02 | None | None | None | None | N | None | 5.31941E-02 | 7.39819E-03 | 0 | 6.34006E-03 | 0 | None | 0 | 9.49367E-03 | 3.52848E-04 | 2.06954E-04 | 1.7192E-02 |
| D/N | rs72648962 |
-0.05 | 0.324 | N | 0.337 | 0.228 | None | 1000 genomes | 1.55751E-02 | None | None | None | None | N | None | 5.37E-02 | 8.6E-03 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| D/N | rs72648962 |
-0.05 | 0.324 | N | 0.337 | 0.228 | None | gnomAD-4.0.0 | 3.23053E-03 | None | None | None | None | N | None | 5.26997E-02 | 4.61107E-03 | None | 6.8405E-03 | 0 | None | 0 | 3.47682E-03 | 3.53735E-04 | 1.65118E-04 | 5.25793E-03 |
| D/V | rs767695386 |
0.279 | 0.324 | N | 0.509 | 0.285 | 0.467329424371 | gnomAD-2.1.1 | 2.02E-05 | None | None | None | None | N | None | 0 | 1.16598E-04 | None | 0 | 5.6E-05 | None | 0 | None | 0 | 0 | 0 |
| D/V | rs767695386 |
0.279 | 0.324 | N | 0.509 | 0.285 | 0.467329424371 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/V | rs767695386 |
0.279 | 0.324 | N | 0.509 | 0.285 | 0.467329424371 | gnomAD-4.0.0 | 1.17869E-05 | None | None | None | None | N | None | 0 | 8.35617E-05 | None | 0 | 2.23194E-05 | None | 0 | 0 | 1.10282E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.111 | likely_benign | 0.1132 | benign | -0.396 | Destabilizing | 0.09 | N | 0.439 | neutral | N | 0.451094309 | None | None | N |
| D/C | 0.4736 | ambiguous | 0.4967 | ambiguous | 0.091 | Stabilizing | 0.981 | D | 0.523 | neutral | None | None | None | None | N |
| D/E | 0.1075 | likely_benign | 0.1105 | benign | -0.44 | Destabilizing | 0.001 | N | 0.075 | neutral | N | 0.454075899 | None | None | N |
| D/F | 0.3678 | ambiguous | 0.382 | ambiguous | -0.357 | Destabilizing | 0.932 | D | 0.509 | neutral | None | None | None | None | N |
| D/G | 0.1459 | likely_benign | 0.1483 | benign | -0.624 | Destabilizing | 0.324 | N | 0.396 | neutral | N | 0.519724888 | None | None | N |
| D/H | 0.128 | likely_benign | 0.1352 | benign | -0.409 | Destabilizing | 0.773 | D | 0.405 | neutral | N | 0.465141041 | None | None | N |
| D/I | 0.2101 | likely_benign | 0.2206 | benign | 0.167 | Stabilizing | 0.69 | D | 0.524 | neutral | None | None | None | None | N |
| D/K | 0.1788 | likely_benign | 0.1867 | benign | 0.303 | Stabilizing | 0.008 | N | 0.329 | neutral | None | None | None | None | N |
| D/L | 0.2156 | likely_benign | 0.2257 | benign | 0.167 | Stabilizing | 0.388 | N | 0.499 | neutral | None | None | None | None | N |
| D/M | 0.3826 | ambiguous | 0.4017 | ambiguous | 0.446 | Stabilizing | 0.981 | D | 0.487 | neutral | None | None | None | None | N |
| D/N | 0.0788 | likely_benign | 0.0789 | benign | -0.05 | Destabilizing | 0.324 | N | 0.337 | neutral | N | 0.443168259 | None | None | N |
| D/P | 0.7866 | likely_pathogenic | 0.7854 | pathogenic | 0.003 | Stabilizing | 0.818 | D | 0.41 | neutral | None | None | None | None | N |
| D/Q | 0.1719 | likely_benign | 0.1802 | benign | -0.017 | Destabilizing | 0.241 | N | 0.372 | neutral | None | None | None | None | N |
| D/R | 0.1902 | likely_benign | 0.2006 | benign | 0.371 | Stabilizing | 0.241 | N | 0.454 | neutral | None | None | None | None | N |
| D/S | 0.0932 | likely_benign | 0.0944 | benign | -0.164 | Destabilizing | 0.116 | N | 0.342 | neutral | None | None | None | None | N |
| D/T | 0.1412 | likely_benign | 0.1466 | benign | 0.018 | Stabilizing | 0.004 | N | 0.167 | neutral | None | None | None | None | N |
| D/V | 0.121 | likely_benign | 0.1276 | benign | 0.003 | Stabilizing | 0.324 | N | 0.509 | neutral | N | 0.44207218 | None | None | N |
| D/W | 0.7431 | likely_pathogenic | 0.7476 | pathogenic | -0.213 | Destabilizing | 0.981 | D | 0.618 | neutral | None | None | None | None | N |
| D/Y | 0.1435 | likely_benign | 0.1486 | benign | -0.108 | Destabilizing | 0.912 | D | 0.509 | neutral | N | 0.49044213 | 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.