Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6681 | 20266;20267;20268 | chr2:178727324;178727323;178727322 | chr2:179592051;179592050;179592049 |
| N2AB | 6364 | 19315;19316;19317 | chr2:178727324;178727323;178727322 | chr2:179592051;179592050;179592049 |
| N2A | 5437 | 16534;16535;16536 | chr2:178727324;178727323;178727322 | chr2:179592051;179592050;179592049 |
| 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/E | None | None | 0.473 | N | 0.457 | 0.161 | 0.20549828249 | gnomAD-4.0.0 | 6.85891E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00985E-07 | 0 | 0 |
| A/T | rs779405672  |
-0.594 | 0.642 | N | 0.367 | 0.103 | 0.204665344411 | gnomAD-2.1.1 | 1.22E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 1.68691E-04 |
| A/T | rs779405672 |
-0.594 | 0.642 | N | 0.367 | 0.103 | 0.204665344411 | 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 |
| A/T | rs779405672 |
-0.594 | 0.642 | N | 0.367 | 0.103 | 0.204665344411 | gnomAD-4.0.0 | 6.83249E-06 | None | None | None | None | N | None | 0 | 1.67768E-05 | None | 0 | 0 | None | 0 | 1.65017E-04 | 5.94309E-06 | 0 | 3.21161E-05 |
| A/V | rs2079510366 |
None | 0.27 | N | 0.358 | 0.088 | 0.17948927462 | gnomAD-4.0.0 | 2.05767E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70295E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5235 | ambiguous | 0.5732 | pathogenic | -0.849 | Destabilizing | 0.017 | N | 0.299 | neutral | None | None | None | None | N |
| A/D | 0.2948 | likely_benign | 0.3135 | benign | -0.674 | Destabilizing | 0.704 | D | 0.485 | neutral | None | None | None | None | N |
| A/E | 0.1567 | likely_benign | 0.159 | benign | -0.813 | Destabilizing | 0.473 | N | 0.457 | neutral | N | 0.385113593 | None | None | N |
| A/F | 0.3005 | likely_benign | 0.3116 | benign | -1.094 | Destabilizing | 0.893 | D | 0.484 | neutral | None | None | None | None | N |
| A/G | 0.1439 | likely_benign | 0.144 | benign | -0.639 | Destabilizing | 0.642 | D | 0.347 | neutral | N | 0.500943473 | None | None | N |
| A/H | 0.4123 | ambiguous | 0.4442 | ambiguous | -0.666 | Destabilizing | 0.017 | N | 0.406 | neutral | None | None | None | None | N |
| A/I | 0.1859 | likely_benign | 0.183 | benign | -0.48 | Destabilizing | 0.007 | N | 0.253 | neutral | None | None | None | None | N |
| A/K | 0.2678 | likely_benign | 0.2723 | benign | -0.773 | Destabilizing | 0.543 | D | 0.465 | neutral | None | None | None | None | N |
| A/L | 0.156 | likely_benign | 0.1551 | benign | -0.48 | Destabilizing | 0.329 | N | 0.418 | neutral | None | None | None | None | N |
| A/M | 0.1828 | likely_benign | 0.1898 | benign | -0.377 | Destabilizing | 0.176 | N | 0.381 | neutral | None | None | None | None | N |
| A/N | 0.2459 | likely_benign | 0.2661 | benign | -0.446 | Destabilizing | 0.893 | D | 0.499 | neutral | None | None | None | None | N |
| A/P | 0.3919 | ambiguous | 0.3132 | benign | -0.465 | Destabilizing | 0.927 | D | 0.423 | neutral | N | 0.430582098 | None | None | N |
| A/Q | 0.2339 | likely_benign | 0.2349 | benign | -0.758 | Destabilizing | 0.069 | N | 0.253 | neutral | None | None | None | None | N |
| A/R | 0.2739 | likely_benign | 0.2701 | benign | -0.293 | Destabilizing | 0.007 | N | 0.255 | neutral | None | None | None | None | N |
| A/S | 0.1056 | likely_benign | 0.1069 | benign | -0.699 | Destabilizing | 0.425 | N | 0.381 | neutral | N | 0.466580183 | None | None | N |
| A/T | 0.0915 | likely_benign | 0.0969 | benign | -0.759 | Destabilizing | 0.642 | D | 0.367 | neutral | N | 0.472871437 | None | None | N |
| A/V | 0.1024 | likely_benign | 0.1008 | benign | -0.465 | Destabilizing | 0.27 | N | 0.358 | neutral | N | 0.44196974 | None | None | N |
| A/W | 0.6335 | likely_pathogenic | 0.6571 | pathogenic | -1.223 | Destabilizing | 0.995 | D | 0.507 | neutral | None | None | None | None | N |
| A/Y | 0.3759 | ambiguous | 0.4061 | ambiguous | -0.869 | Destabilizing | 0.893 | D | 0.485 | 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.