Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31679 | 95260;95261;95262 | chr2:178546296;178546295;178546294 | chr2:179411023;179411022;179411021 |
| N2AB | 30038 | 90337;90338;90339 | chr2:178546296;178546295;178546294 | chr2:179411023;179411022;179411021 |
| N2A | 29111 | 87556;87557;87558 | chr2:178546296;178546295;178546294 | chr2:179411023;179411022;179411021 |
| N2B | 22614 | 68065;68066;68067 | chr2:178546296;178546295;178546294 | chr2:179411023;179411022;179411021 |
| Novex-1 | 22739 | 68440;68441;68442 | chr2:178546296;178546295;178546294 | chr2:179411023;179411022;179411021 |
| Novex-2 | 22806 | 68641;68642;68643 | chr2:178546296;178546295;178546294 | chr2:179411023;179411022;179411021 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | None | None | 1.0 | N | 0.752 | 0.528 | 0.431379191433 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.75482E-04 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs116567963  |
-0.426 | 1.0 | N | 0.724 | 0.368 | None | gnomAD-2.1.1 | 1.50973E-03 | None | None | None | None | N | None | 1.68224E-02 | 3.39328E-04 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 2.34E-05 | 0 |
| D/N | rs116567963 |
-0.426 | 1.0 | N | 0.724 | 0.368 | None | gnomAD-3.1.2 | 4.41519E-03 | None | None | None | None | N | None | 1.58255E-02 | 5.23492E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 3.34288E-03 |
| D/N | rs116567963 |
-0.426 | 1.0 | N | 0.724 | 0.368 | None | 1000 genomes | 3.99361E-03 | None | None | None | None | N | None | 1.51E-02 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| D/N | rs116567963 |
-0.426 | 1.0 | N | 0.724 | 0.368 | None | gnomAD-4.0.0 | 8.09861E-04 | None | None | None | None | N | None | 1.60564E-02 | 4.3316E-04 | None | 0 | 0 | None | 0 | 3.3036E-04 | 5.08572E-06 | 3.29402E-05 | 1.04033E-03 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.292 | likely_benign | 0.2908 | benign | -0.189 | Destabilizing | 1.0 | D | 0.78 | deleterious | N | 0.506275588 | None | None | N |
| D/C | 0.6375 | likely_pathogenic | 0.6418 | pathogenic | 0.313 | Stabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| D/E | 0.2303 | likely_benign | 0.2456 | benign | -0.362 | Destabilizing | 1.0 | D | 0.457 | neutral | N | 0.470064071 | None | None | N |
| D/F | 0.729 | likely_pathogenic | 0.7455 | pathogenic | -0.47 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| D/G | 0.2715 | likely_benign | 0.2726 | benign | -0.386 | Destabilizing | 1.0 | D | 0.752 | deleterious | N | 0.484567147 | None | None | N |
| D/H | 0.3573 | ambiguous | 0.3702 | ambiguous | -0.645 | Destabilizing | 1.0 | D | 0.753 | deleterious | N | 0.510182684 | None | None | N |
| D/I | 0.4655 | ambiguous | 0.4877 | ambiguous | 0.275 | Stabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| D/K | 0.4893 | ambiguous | 0.4899 | ambiguous | 0.268 | Stabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| D/L | 0.4696 | ambiguous | 0.4745 | ambiguous | 0.275 | Stabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| D/M | 0.6851 | likely_pathogenic | 0.7081 | pathogenic | 0.662 | Stabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| D/N | 0.1077 | likely_benign | 0.1145 | benign | 0.126 | Stabilizing | 1.0 | D | 0.724 | prob.delet. | N | 0.469104066 | None | None | N |
| D/P | 0.9417 | likely_pathogenic | 0.9355 | pathogenic | 0.143 | Stabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| D/Q | 0.4011 | ambiguous | 0.4175 | ambiguous | 0.145 | Stabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| D/R | 0.5163 | ambiguous | 0.5187 | ambiguous | 0.215 | Stabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| D/S | 0.1445 | likely_benign | 0.1472 | benign | 0.003 | Stabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| D/T | 0.2681 | likely_benign | 0.2734 | benign | 0.148 | Stabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| D/V | 0.3018 | likely_benign | 0.3109 | benign | 0.143 | Stabilizing | 1.0 | D | 0.813 | deleterious | N | 0.470317574 | None | None | N |
| D/W | 0.9406 | likely_pathogenic | 0.9444 | pathogenic | -0.475 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| D/Y | 0.3816 | ambiguous | 0.3876 | ambiguous | -0.274 | Destabilizing | 1.0 | D | 0.788 | deleterious | N | 0.517359373 | 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.