Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31748 | 95467;95468;95469 | chr2:178545994;178545993;178545992 | chr2:179410721;179410720;179410719 |
| N2AB | 30107 | 90544;90545;90546 | chr2:178545994;178545993;178545992 | chr2:179410721;179410720;179410719 |
| N2A | 29180 | 87763;87764;87765 | chr2:178545994;178545993;178545992 | chr2:179410721;179410720;179410719 |
| N2B | 22683 | 68272;68273;68274 | chr2:178545994;178545993;178545992 | chr2:179410721;179410720;179410719 |
| Novex-1 | 22808 | 68647;68648;68649 | chr2:178545994;178545993;178545992 | chr2:179410721;179410720;179410719 |
| Novex-2 | 22875 | 68848;68849;68850 | chr2:178545994;178545993;178545992 | chr2:179410721;179410720;179410719 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs142525903  |
-1.626 | 1.0 | N | 0.903 | 0.496 | None | gnomAD-2.1.1 | 9.89512E-04 | None | None | None | None | N | None | 1.23987E-03 | 4.24713E-04 | None | 1.69344E-02 | 0 | None | 3.27E-05 | None | 0 | 3.20628E-04 | 2.10615E-03 |
| R/C | rs142525903 |
-1.626 | 1.0 | N | 0.903 | 0.496 | None | gnomAD-3.1.2 | 7.42688E-04 | None | None | None | None | N | None | 8.68768E-04 | 2.61849E-04 | 0 | 1.49942E-02 | 0 | None | 0 | 0 | 2.2053E-04 | 0 | 2.87356E-03 |
| R/C | rs142525903 |
-1.626 | 1.0 | N | 0.903 | 0.496 | None | 1000 genomes | 1.19808E-03 | None | None | None | None | N | None | 4.5E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| R/C | rs142525903 |
-1.626 | 1.0 | N | 0.903 | 0.496 | None | gnomAD-4.0.0 | 5.91154E-04 | None | None | None | None | N | None | 1.23964E-03 | 3.99933E-04 | None | 1.67917E-02 | 0 | None | 0 | 3.63036E-03 | 1.72066E-04 | 1.09791E-05 | 1.8247E-03 |
| R/H | rs547575746 |
-2.626 | 1.0 | N | 0.762 | 0.678 | 0.403469152278 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| R/H | rs547575746 |
-2.626 | 1.0 | N | 0.762 | 0.678 | 0.403469152278 | 1000 genomes | None | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| R/H | rs547575746 |
-2.626 | 1.0 | N | 0.762 | 0.678 | 0.403469152278 | gnomAD-4.0.0 | 1.84739E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52054E-05 | None | 0 | 0 | 1.8889E-05 | 3.47802E-05 | 3.31334E-05 |
| R/L | None | None | 1.0 | N | 0.779 | 0.68 | 0.602559457607 | gnomAD-4.0.0 | 6.84219E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99475E-07 | 0 | 0 |
| R/S | rs142525903 |
-1.926 | 1.0 | N | 0.773 | 0.559 | 0.403328974453 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| R/S | rs142525903 |
-1.926 | 1.0 | N | 0.773 | 0.559 | 0.403328974453 | gnomAD-4.0.0 | 6.84216E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9839 | likely_pathogenic | 0.9843 | pathogenic | -2.08 | Highly Destabilizing | 0.999 | D | 0.545 | neutral | None | None | None | None | N |
| R/C | 0.6683 | likely_pathogenic | 0.6592 | pathogenic | -1.875 | Destabilizing | 1.0 | D | 0.903 | deleterious | N | 0.48108293 | None | None | N |
| R/D | 0.9985 | likely_pathogenic | 0.9987 | pathogenic | -0.859 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| R/E | 0.9759 | likely_pathogenic | 0.9787 | pathogenic | -0.639 | Destabilizing | 0.999 | D | 0.543 | neutral | None | None | None | None | N |
| R/F | 0.993 | likely_pathogenic | 0.9942 | pathogenic | -1.239 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| R/G | 0.9701 | likely_pathogenic | 0.9723 | pathogenic | -2.427 | Highly Destabilizing | 1.0 | D | 0.779 | deleterious | N | 0.502554546 | None | None | N |
| R/H | 0.7752 | likely_pathogenic | 0.7991 | pathogenic | -2.119 | Highly Destabilizing | 1.0 | D | 0.762 | deleterious | N | 0.516722009 | None | None | N |
| R/I | 0.9822 | likely_pathogenic | 0.986 | pathogenic | -1.068 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| R/K | 0.4941 | ambiguous | 0.5457 | ambiguous | -1.23 | Destabilizing | 0.998 | D | 0.484 | neutral | None | None | None | None | N |
| R/L | 0.9406 | likely_pathogenic | 0.9595 | pathogenic | -1.068 | Destabilizing | 1.0 | D | 0.779 | deleterious | N | 0.507883691 | None | None | N |
| R/M | 0.9512 | likely_pathogenic | 0.9639 | pathogenic | -1.559 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| R/N | 0.9942 | likely_pathogenic | 0.9953 | pathogenic | -1.202 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| R/P | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.395 | Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.548397841 | None | None | N |
| R/Q | 0.5292 | ambiguous | 0.5553 | ambiguous | -1.109 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | N |
| R/S | 0.9928 | likely_pathogenic | 0.9932 | pathogenic | -2.175 | Highly Destabilizing | 1.0 | D | 0.773 | deleterious | N | 0.480091744 | None | None | N |
| R/T | 0.9842 | likely_pathogenic | 0.9884 | pathogenic | -1.741 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| R/V | 0.9794 | likely_pathogenic | 0.9832 | pathogenic | -1.395 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| R/W | 0.92 | likely_pathogenic | 0.9387 | pathogenic | -0.689 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| R/Y | 0.9743 | likely_pathogenic | 0.9776 | pathogenic | -0.584 | Destabilizing | 1.0 | D | 0.925 | 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.