Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28442 | 85549;85550;85551 | chr2:178560808;178560807;178560806 | chr2:179425535;179425534;179425533 |
| N2AB | 26801 | 80626;80627;80628 | chr2:178560808;178560807;178560806 | chr2:179425535;179425534;179425533 |
| N2A | 25874 | 77845;77846;77847 | chr2:178560808;178560807;178560806 | chr2:179425535;179425534;179425533 |
| N2B | 19377 | 58354;58355;58356 | chr2:178560808;178560807;178560806 | chr2:179425535;179425534;179425533 |
| Novex-1 | 19502 | 58729;58730;58731 | chr2:178560808;178560807;178560806 | chr2:179425535;179425534;179425533 |
| Novex-2 | 19569 | 58930;58931;58932 | chr2:178560808;178560807;178560806 | chr2:179425535;179425534;179425533 |
| 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/P | None | None | 0.908 | N | 0.861 | 0.379 | 0.376570364461 | gnomAD-4.0.0 | 1.59164E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77994E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs1440588329  |
None | 0.01 | N | 0.389 | 0.076 | 0.134241683229 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs1440588329 |
None | 0.01 | N | 0.389 | 0.076 | 0.134241683229 | gnomAD-4.0.0 | 6.57091E-06 | None | None | None | None | N | None | 0 | 6.5505E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5001 | ambiguous | 0.5082 | ambiguous | -0.763 | Destabilizing | 0.98 | D | 0.795 | deleterious | None | None | None | None | N |
| A/D | 0.4181 | ambiguous | 0.4602 | ambiguous | -0.957 | Destabilizing | 0.83 | D | 0.884 | deleterious | N | 0.473413808 | None | None | N |
| A/E | 0.3641 | ambiguous | 0.3983 | ambiguous | -1.101 | Destabilizing | 0.866 | D | 0.832 | deleterious | None | None | None | None | N |
| A/F | 0.3852 | ambiguous | 0.3966 | ambiguous | -1.041 | Destabilizing | 0.929 | D | 0.905 | deleterious | None | None | None | None | N |
| A/G | 0.1734 | likely_benign | 0.1842 | benign | -0.61 | Destabilizing | 0.581 | D | 0.599 | neutral | N | 0.483415059 | None | None | N |
| A/H | 0.5192 | ambiguous | 0.5386 | ambiguous | -0.72 | Destabilizing | 0.993 | D | 0.885 | deleterious | None | None | None | None | N |
| A/I | 0.244 | likely_benign | 0.2446 | benign | -0.445 | Destabilizing | 0.764 | D | 0.861 | deleterious | None | None | None | None | N |
| A/K | 0.5201 | ambiguous | 0.552 | ambiguous | -0.996 | Destabilizing | 0.866 | D | 0.852 | deleterious | None | None | None | None | N |
| A/L | 0.1681 | likely_benign | 0.181 | benign | -0.445 | Destabilizing | 0.48 | N | 0.699 | prob.neutral | None | None | None | None | N |
| A/M | 0.2253 | likely_benign | 0.23 | benign | -0.378 | Destabilizing | 0.98 | D | 0.846 | deleterious | None | None | None | None | N |
| A/N | 0.2937 | likely_benign | 0.3179 | benign | -0.586 | Destabilizing | 0.866 | D | 0.881 | deleterious | None | None | None | None | N |
| A/P | 0.1235 | likely_benign | 0.1452 | benign | -0.432 | Destabilizing | 0.908 | D | 0.861 | deleterious | N | 0.431703258 | None | None | N |
| A/Q | 0.3905 | ambiguous | 0.4185 | ambiguous | -0.896 | Destabilizing | 0.929 | D | 0.879 | deleterious | None | None | None | None | N |
| A/R | 0.4489 | ambiguous | 0.48 | ambiguous | -0.463 | Destabilizing | 0.866 | D | 0.866 | deleterious | None | None | None | None | N |
| A/S | 0.1057 | likely_benign | 0.1113 | benign | -0.753 | Destabilizing | 0.41 | N | 0.569 | neutral | N | 0.422464912 | None | None | N |
| A/T | 0.096 | likely_benign | 0.1108 | benign | -0.826 | Destabilizing | 0.01 | N | 0.389 | neutral | N | 0.411402557 | None | None | N |
| A/V | 0.1319 | likely_benign | 0.1371 | benign | -0.432 | Destabilizing | 0.41 | N | 0.613 | neutral | N | 0.468528063 | None | None | N |
| A/W | 0.7681 | likely_pathogenic | 0.7651 | pathogenic | -1.211 | Destabilizing | 0.993 | D | 0.859 | deleterious | None | None | None | None | N |
| A/Y | 0.5092 | ambiguous | 0.5216 | ambiguous | -0.875 | Destabilizing | 0.98 | D | 0.899 | deleterious | 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.