Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35633 | 107122;107123;107124 | chr2:178528854;178528853;178528852 | chr2:179393581;179393580;179393579 |
| N2AB | 33992 | 102199;102200;102201 | chr2:178528854;178528853;178528852 | chr2:179393581;179393580;179393579 |
| N2A | 33065 | 99418;99419;99420 | chr2:178528854;178528853;178528852 | chr2:179393581;179393580;179393579 |
| N2B | 26568 | 79927;79928;79929 | chr2:178528854;178528853;178528852 | chr2:179393581;179393580;179393579 |
| Novex-1 | 26693 | 80302;80303;80304 | chr2:178528854;178528853;178528852 | chr2:179393581;179393580;179393579 |
| Novex-2 | 26760 | 80503;80504;80505 | chr2:178528854;178528853;178528852 | chr2:179393581;179393580;179393579 |
| 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/T | rs766681840  |
None | 1.0 | N | 0.755 | 0.326 | 0.465549362696 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8322 | likely_pathogenic | 0.8361 | pathogenic | -0.83 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| A/D | 0.8103 | likely_pathogenic | 0.8682 | pathogenic | -0.534 | Destabilizing | 1.0 | D | 0.813 | deleterious | N | 0.482841368 | None | None | N |
| A/E | 0.7951 | likely_pathogenic | 0.8537 | pathogenic | -0.662 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| A/F | 0.847 | likely_pathogenic | 0.8783 | pathogenic | -1.071 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| A/G | 0.2223 | likely_benign | 0.2284 | benign | -0.698 | Destabilizing | 1.0 | D | 0.628 | neutral | N | 0.484228234 | None | None | N |
| A/H | 0.9241 | likely_pathogenic | 0.9417 | pathogenic | -0.755 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| A/I | 0.7492 | likely_pathogenic | 0.7884 | pathogenic | -0.452 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| A/K | 0.9203 | likely_pathogenic | 0.9459 | pathogenic | -0.766 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| A/L | 0.6786 | likely_pathogenic | 0.7179 | pathogenic | -0.452 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| A/M | 0.7212 | likely_pathogenic | 0.7639 | pathogenic | -0.362 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| A/N | 0.758 | likely_pathogenic | 0.8014 | pathogenic | -0.422 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| A/P | 0.8361 | likely_pathogenic | 0.8704 | pathogenic | -0.458 | Destabilizing | 1.0 | D | 0.787 | deleterious | N | 0.484401593 | None | None | N |
| A/Q | 0.8372 | likely_pathogenic | 0.8676 | pathogenic | -0.703 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| A/R | 0.876 | likely_pathogenic | 0.9083 | pathogenic | -0.34 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| A/S | 0.1564 | likely_benign | 0.1565 | benign | -0.717 | Destabilizing | 1.0 | D | 0.649 | neutral | N | 0.482841368 | None | None | N |
| A/T | 0.2704 | likely_benign | 0.3011 | benign | -0.759 | Destabilizing | 1.0 | D | 0.755 | deleterious | N | 0.482668009 | None | None | N |
| A/V | 0.4564 | ambiguous | 0.5008 | ambiguous | -0.458 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | N | 0.482841368 | None | None | N |
| A/W | 0.9779 | likely_pathogenic | 0.9822 | pathogenic | -1.22 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| A/Y | 0.917 | likely_pathogenic | 0.9353 | pathogenic | -0.857 | Destabilizing | 1.0 | D | 0.804 | 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.