Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30691 | 92296;92297;92298 | chr2:178549651;178549650;178549649 | chr2:179414378;179414377;179414376 |
| N2AB | 29050 | 87373;87374;87375 | chr2:178549651;178549650;178549649 | chr2:179414378;179414377;179414376 |
| N2A | 28123 | 84592;84593;84594 | chr2:178549651;178549650;178549649 | chr2:179414378;179414377;179414376 |
| N2B | 21626 | 65101;65102;65103 | chr2:178549651;178549650;178549649 | chr2:179414378;179414377;179414376 |
| Novex-1 | 21751 | 65476;65477;65478 | chr2:178549651;178549650;178549649 | chr2:179414378;179414377;179414376 |
| Novex-2 | 21818 | 65677;65678;65679 | chr2:178549651;178549650;178549649 | chr2:179414378;179414377;179414376 |
| 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/E | rs573510674  |
-1.971 | 0.992 | N | 0.49 | 0.356 | 0.322230723748 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.67187E-04 | None | 0 | None | 0 | 0 | 0 |
| Q/E | rs573510674 |
-1.971 | 0.992 | N | 0.49 | 0.356 | 0.322230723748 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.85208E-04 | None | 0 | 0 | 0 | 0 | 0 |
| Q/E | rs573510674 |
-1.971 | 0.992 | N | 0.49 | 0.356 | 0.322230723748 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| Q/E | rs573510674 |
-1.971 | 0.992 | N | 0.49 | 0.356 | 0.322230723748 | gnomAD-4.0.0 | 3.71798E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.33726E-04 | None | 0 | 0 | 0 | 0 | 0 |
| Q/R | rs369434118 |
-1.007 | 0.997 | N | 0.577 | 0.422 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| Q/R | rs369434118 |
-1.007 | 0.997 | N | 0.577 | 0.422 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Q/R | rs369434118 |
-1.007 | 0.997 | N | 0.577 | 0.422 | None | gnomAD-4.0.0 | 6.56987E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46985E-05 | 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 | 0.4784 | ambiguous | 0.4722 | ambiguous | -1.786 | Destabilizing | 0.997 | D | 0.571 | neutral | None | None | None | None | N |
| Q/C | 0.6534 | likely_pathogenic | 0.6558 | pathogenic | -1.039 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| Q/D | 0.9004 | likely_pathogenic | 0.9163 | pathogenic | -2.36 | Highly Destabilizing | 0.997 | D | 0.562 | neutral | None | None | None | None | N |
| Q/E | 0.146 | likely_benign | 0.1566 | benign | -2.026 | Highly Destabilizing | 0.992 | D | 0.49 | neutral | N | 0.455659474 | None | None | N |
| Q/F | 0.8186 | likely_pathogenic | 0.8444 | pathogenic | -1.084 | Destabilizing | 0.999 | D | 0.795 | deleterious | None | None | None | None | N |
| Q/G | 0.7616 | likely_pathogenic | 0.7506 | pathogenic | -2.225 | Highly Destabilizing | 0.997 | D | 0.639 | neutral | None | None | None | None | N |
| Q/H | 0.461 | ambiguous | 0.4994 | ambiguous | -1.558 | Destabilizing | 0.999 | D | 0.723 | prob.delet. | N | 0.519481666 | None | None | N |
| Q/I | 0.2656 | likely_benign | 0.3155 | benign | -0.546 | Destabilizing | 0.999 | D | 0.784 | deleterious | None | None | None | None | N |
| Q/K | 0.227 | likely_benign | 0.2623 | benign | -0.815 | Destabilizing | 0.997 | D | 0.583 | neutral | N | 0.486579814 | None | None | N |
| Q/L | 0.188 | likely_benign | 0.2068 | benign | -0.546 | Destabilizing | 0.997 | D | 0.639 | neutral | N | 0.453488748 | None | None | N |
| Q/M | 0.3642 | ambiguous | 0.3906 | ambiguous | -0.46 | Destabilizing | 0.999 | D | 0.725 | prob.delet. | None | None | None | None | N |
| Q/N | 0.7082 | likely_pathogenic | 0.7262 | pathogenic | -1.655 | Destabilizing | 0.999 | D | 0.665 | neutral | None | None | None | None | N |
| Q/P | 0.9789 | likely_pathogenic | 0.9769 | pathogenic | -0.94 | Destabilizing | 0.999 | D | 0.693 | prob.neutral | N | 0.49988152 | None | None | N |
| Q/R | 0.2192 | likely_benign | 0.238 | benign | -1.004 | Destabilizing | 0.997 | D | 0.577 | neutral | N | 0.50120255 | None | None | N |
| Q/S | 0.5573 | ambiguous | 0.542 | ambiguous | -2.012 | Highly Destabilizing | 0.997 | D | 0.54 | neutral | None | None | None | None | N |
| Q/T | 0.3596 | ambiguous | 0.3763 | ambiguous | -1.506 | Destabilizing | 0.999 | D | 0.642 | neutral | None | None | None | None | N |
| Q/V | 0.2192 | likely_benign | 0.2442 | benign | -0.94 | Destabilizing | 0.999 | D | 0.678 | prob.neutral | None | None | None | None | N |
| Q/W | 0.8199 | likely_pathogenic | 0.8532 | pathogenic | -1.139 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| Q/Y | 0.6825 | likely_pathogenic | 0.7172 | pathogenic | -0.806 | Destabilizing | 0.999 | D | 0.728 | prob.delet. | 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.