Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25368 | 76327;76328;76329 | chr2:178570030;178570029;178570028 | chr2:179434757;179434756;179434755 |
| N2AB | 23727 | 71404;71405;71406 | chr2:178570030;178570029;178570028 | chr2:179434757;179434756;179434755 |
| N2A | 22800 | 68623;68624;68625 | chr2:178570030;178570029;178570028 | chr2:179434757;179434756;179434755 |
| N2B | 16303 | 49132;49133;49134 | chr2:178570030;178570029;178570028 | chr2:179434757;179434756;179434755 |
| Novex-1 | 16428 | 49507;49508;49509 | chr2:178570030;178570029;178570028 | chr2:179434757;179434756;179434755 |
| Novex-2 | 16495 | 49708;49709;49710 | chr2:178570030;178570029;178570028 | chr2:179434757;179434756;179434755 |
| 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/R | rs551988703  |
-0.102 | 1.0 | N | 0.775 | 0.588 | 0.745312688576 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94024E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs551988703 |
-0.102 | 1.0 | N | 0.775 | 0.588 | 0.745312688576 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| G/R | rs551988703 |
-0.102 | 1.0 | N | 0.775 | 0.588 | 0.745312688576 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 3.66327E-05 |
| G/V | rs753304499 |
0.013 | 1.0 | D | 0.762 | 0.622 | 0.883579667158 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| G/V | rs753304499 |
0.013 | 1.0 | D | 0.762 | 0.622 | 0.883579667158 | gnomAD-4.0.0 | 1.59238E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85987E-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 | 0.3376 | likely_benign | 0.3116 | benign | -0.29 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | N | 0.514954944 | None | None | N |
| G/C | 0.5001 | ambiguous | 0.4601 | ambiguous | -0.888 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| G/D | 0.7379 | likely_pathogenic | 0.682 | pathogenic | -0.392 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| G/E | 0.8253 | likely_pathogenic | 0.7774 | pathogenic | -0.534 | Destabilizing | 1.0 | D | 0.752 | deleterious | N | 0.475668561 | None | None | N |
| G/F | 0.9253 | likely_pathogenic | 0.9126 | pathogenic | -0.935 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| G/H | 0.7912 | likely_pathogenic | 0.7333 | pathogenic | -0.504 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| G/I | 0.8849 | likely_pathogenic | 0.863 | pathogenic | -0.353 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| G/K | 0.918 | likely_pathogenic | 0.9009 | pathogenic | -0.776 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| G/L | 0.8654 | likely_pathogenic | 0.8429 | pathogenic | -0.353 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| G/M | 0.8653 | likely_pathogenic | 0.8368 | pathogenic | -0.494 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| G/N | 0.4785 | ambiguous | 0.418 | ambiguous | -0.443 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| G/P | 0.9786 | likely_pathogenic | 0.9766 | pathogenic | -0.297 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| G/Q | 0.7958 | likely_pathogenic | 0.7448 | pathogenic | -0.681 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| G/R | 0.8363 | likely_pathogenic | 0.8038 | pathogenic | -0.37 | Destabilizing | 1.0 | D | 0.775 | deleterious | N | 0.497268763 | None | None | N |
| G/S | 0.1686 | likely_benign | 0.1475 | benign | -0.638 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| G/T | 0.4974 | ambiguous | 0.4524 | ambiguous | -0.697 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| G/V | 0.7702 | likely_pathogenic | 0.7388 | pathogenic | -0.297 | Destabilizing | 1.0 | D | 0.762 | deleterious | D | 0.549948913 | None | None | N |
| G/W | 0.8797 | likely_pathogenic | 0.8599 | pathogenic | -1.108 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| G/Y | 0.8517 | likely_pathogenic | 0.8213 | pathogenic | -0.743 | Destabilizing | 1.0 | D | 0.749 | 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.