Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17438 | 52537;52538;52539 | chr2:178608699;178608698;178608697 | chr2:179473426;179473425;179473424 |
| N2AB | 15797 | 47614;47615;47616 | chr2:178608699;178608698;178608697 | chr2:179473426;179473425;179473424 |
| N2A | 14870 | 44833;44834;44835 | chr2:178608699;178608698;178608697 | chr2:179473426;179473425;179473424 |
| N2B | 8373 | 25342;25343;25344 | chr2:178608699;178608698;178608697 | chr2:179473426;179473425;179473424 |
| Novex-1 | 8498 | 25717;25718;25719 | chr2:178608699;178608698;178608697 | chr2:179473426;179473425;179473424 |
| Novex-2 | 8565 | 25918;25919;25920 | chr2:178608699;178608698;178608697 | chr2:179473426;179473425;179473424 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs1356720044  |
-1.253 | 0.007 | N | 0.434 | 0.344 | 0.329540904979 | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 1.67224E-04 |
| G/E | rs1356720044 |
-1.253 | 0.007 | N | 0.434 | 0.344 | 0.329540904979 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/E | rs1356720044 |
-1.253 | 0.007 | N | 0.434 | 0.344 | 0.329540904979 | gnomAD-4.0.0 | 5.58221E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.63276E-06 | 0 | 0 |
| G/R | None | None | 0.015 | N | 0.45 | 0.443 | 0.455816718377 | gnomAD-4.0.0 | 2.7391E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59965E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4874 | ambiguous | 0.4746 | ambiguous | -0.525 | Destabilizing | 0.472 | N | 0.359 | neutral | N | 0.495471564 | None | None | N |
| G/C | 0.555 | ambiguous | 0.5587 | ambiguous | -0.862 | Destabilizing | 0.996 | D | 0.617 | neutral | None | None | None | None | N |
| G/D | 0.1836 | likely_benign | 0.1787 | benign | -1.016 | Destabilizing | 0.009 | N | 0.333 | neutral | None | None | None | None | N |
| G/E | 0.3598 | ambiguous | 0.3365 | benign | -1.146 | Destabilizing | 0.007 | N | 0.434 | neutral | N | 0.493002802 | None | None | N |
| G/F | 0.8728 | likely_pathogenic | 0.8712 | pathogenic | -1.047 | Destabilizing | 0.984 | D | 0.573 | neutral | None | None | None | None | N |
| G/H | 0.6221 | likely_pathogenic | 0.601 | pathogenic | -0.922 | Destabilizing | 0.953 | D | 0.551 | neutral | None | None | None | None | N |
| G/I | 0.8893 | likely_pathogenic | 0.8762 | pathogenic | -0.448 | Destabilizing | 0.953 | D | 0.582 | neutral | None | None | None | None | N |
| G/K | 0.7026 | likely_pathogenic | 0.6697 | pathogenic | -1.247 | Destabilizing | 0.016 | N | 0.329 | neutral | None | None | None | None | N |
| G/L | 0.8164 | likely_pathogenic | 0.8154 | pathogenic | -0.448 | Destabilizing | 0.91 | D | 0.577 | neutral | None | None | None | None | N |
| G/M | 0.8022 | likely_pathogenic | 0.8028 | pathogenic | -0.411 | Destabilizing | 0.996 | D | 0.565 | neutral | None | None | None | None | N |
| G/N | 0.2402 | likely_benign | 0.2442 | benign | -0.815 | Destabilizing | 0.59 | D | 0.419 | neutral | None | None | None | None | N |
| G/P | 0.99 | likely_pathogenic | 0.9871 | pathogenic | -0.436 | Destabilizing | 0.953 | D | 0.569 | neutral | None | None | None | None | N |
| G/Q | 0.5556 | ambiguous | 0.518 | ambiguous | -1.091 | Destabilizing | 0.835 | D | 0.551 | neutral | None | None | None | None | N |
| G/R | 0.6779 | likely_pathogenic | 0.6242 | pathogenic | -0.754 | Destabilizing | 0.015 | N | 0.45 | neutral | N | 0.511867525 | None | None | N |
| G/S | 0.2455 | likely_benign | 0.2382 | benign | -0.964 | Destabilizing | 0.742 | D | 0.362 | neutral | None | None | None | None | N |
| G/T | 0.5046 | ambiguous | 0.5064 | ambiguous | -1.03 | Destabilizing | 0.742 | D | 0.543 | neutral | None | None | None | None | N |
| G/V | 0.8065 | likely_pathogenic | 0.7899 | pathogenic | -0.436 | Destabilizing | 0.939 | D | 0.581 | neutral | D | 0.527769734 | None | None | N |
| G/W | 0.7258 | likely_pathogenic | 0.6894 | pathogenic | -1.281 | Destabilizing | 0.996 | D | 0.634 | neutral | None | None | None | None | N |
| G/Y | 0.683 | likely_pathogenic | 0.6795 | pathogenic | -0.931 | Destabilizing | 0.984 | D | 0.579 | 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.