Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27831 | 83716;83717;83718 | chr2:178562641;178562640;178562639 | chr2:179427368;179427367;179427366 |
| N2AB | 26190 | 78793;78794;78795 | chr2:178562641;178562640;178562639 | chr2:179427368;179427367;179427366 |
| N2A | 25263 | 76012;76013;76014 | chr2:178562641;178562640;178562639 | chr2:179427368;179427367;179427366 |
| N2B | 18766 | 56521;56522;56523 | chr2:178562641;178562640;178562639 | chr2:179427368;179427367;179427366 |
| Novex-1 | 18891 | 56896;56897;56898 | chr2:178562641;178562640;178562639 | chr2:179427368;179427367;179427366 |
| Novex-2 | 18958 | 57097;57098;57099 | chr2:178562641;178562640;178562639 | chr2:179427368;179427367;179427366 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/P | rs758772714  |
-0.299 | 0.895 | N | 0.52 | 0.315 | 0.314716216878 | gnomAD-2.1.1 | 4.21E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.14E-06 | 0 |
| Q/P | rs758772714 |
-0.299 | 0.895 | N | 0.52 | 0.315 | 0.314716216878 | gnomAD-4.0.0 | 3.4467E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.60911E-06 | 0 | 1.66973E-05 |
| Q/R | rs758772714 |
0.07 | 0.41 | N | 0.469 | 0.163 | 0.185906805712 | gnomAD-2.1.1 | 4.21E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.14E-06 | 0 |
| Q/R | rs758772714 |
0.07 | 0.41 | N | 0.469 | 0.163 | 0.185906805712 | gnomAD-4.0.0 | 3.4467E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.51139E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.1882 | likely_benign | 0.1722 | benign | -0.415 | Destabilizing | 0.419 | N | 0.439 | neutral | None | None | None | None | N |
| Q/C | 0.6804 | likely_pathogenic | 0.7275 | pathogenic | -0.037 | Destabilizing | 0.977 | D | 0.585 | neutral | None | None | None | None | N |
| Q/D | 0.5411 | ambiguous | 0.5605 | ambiguous | 0.036 | Stabilizing | 0.764 | D | 0.429 | neutral | None | None | None | None | N |
| Q/E | 0.1116 | likely_benign | 0.1218 | benign | 0.076 | Stabilizing | 0.314 | N | 0.375 | neutral | N | 0.46533775 | None | None | N |
| Q/F | 0.6903 | likely_pathogenic | 0.7279 | pathogenic | -0.42 | Destabilizing | 0.63 | D | 0.597 | neutral | None | None | None | None | N |
| Q/G | 0.3316 | likely_benign | 0.3367 | benign | -0.67 | Destabilizing | 0.78 | D | 0.487 | neutral | None | None | None | None | N |
| Q/H | 0.2747 | likely_benign | 0.304 | benign | -0.282 | Destabilizing | 0.919 | D | 0.451 | neutral | N | 0.468027876 | None | None | N |
| Q/I | 0.2698 | likely_benign | 0.2766 | benign | 0.191 | Stabilizing | 0.258 | N | 0.497 | neutral | None | None | None | None | N |
| Q/K | 0.1359 | likely_benign | 0.1628 | benign | -0.018 | Destabilizing | 0.515 | D | 0.399 | neutral | N | 0.448098784 | None | None | N |
| Q/L | 0.1064 | likely_benign | 0.1124 | benign | 0.191 | Stabilizing | 0.001 | N | 0.199 | neutral | N | 0.495180655 | None | None | N |
| Q/M | 0.2711 | likely_benign | 0.2772 | benign | 0.264 | Stabilizing | 0.709 | D | 0.463 | neutral | None | None | None | None | N |
| Q/N | 0.3435 | ambiguous | 0.3374 | benign | -0.515 | Destabilizing | 0.919 | D | 0.436 | neutral | None | None | None | None | N |
| Q/P | 0.1791 | likely_benign | 0.1585 | benign | 0.018 | Stabilizing | 0.895 | D | 0.52 | neutral | N | 0.492221744 | None | None | N |
| Q/R | 0.1576 | likely_benign | 0.1859 | benign | 0.166 | Stabilizing | 0.41 | N | 0.469 | neutral | N | 0.473322515 | None | None | N |
| Q/S | 0.2552 | likely_benign | 0.235 | benign | -0.569 | Destabilizing | 0.78 | D | 0.371 | neutral | None | None | None | None | N |
| Q/T | 0.1817 | likely_benign | 0.1622 | benign | -0.348 | Destabilizing | 0.063 | N | 0.5 | neutral | None | None | None | None | N |
| Q/V | 0.1753 | likely_benign | 0.1705 | benign | 0.018 | Stabilizing | 0.095 | N | 0.45 | neutral | None | None | None | None | N |
| Q/W | 0.6609 | likely_pathogenic | 0.7411 | pathogenic | -0.358 | Destabilizing | 0.995 | D | 0.609 | neutral | None | None | None | None | N |
| Q/Y | 0.5469 | ambiguous | 0.5925 | pathogenic | -0.109 | Destabilizing | 0.874 | D | 0.527 | 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.