Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28156 | 84691;84692;84693 | chr2:178561666;178561665;178561664 | chr2:179426393;179426392;179426391 |
| N2AB | 26515 | 79768;79769;79770 | chr2:178561666;178561665;178561664 | chr2:179426393;179426392;179426391 |
| N2A | 25588 | 76987;76988;76989 | chr2:178561666;178561665;178561664 | chr2:179426393;179426392;179426391 |
| N2B | 19091 | 57496;57497;57498 | chr2:178561666;178561665;178561664 | chr2:179426393;179426392;179426391 |
| Novex-1 | 19216 | 57871;57872;57873 | chr2:178561666;178561665;178561664 | chr2:179426393;179426392;179426391 |
| Novex-2 | 19283 | 58072;58073;58074 | chr2:178561666;178561665;178561664 | chr2:179426393;179426392;179426391 |
| 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 | rs763560084  |
-0.852 | 1.0 | N | 0.857 | 0.421 | 0.658847598183 | gnomAD-2.1.1 | 5.46E-05 | None | None | None | None | N | None | 4.14E-05 | 2.00918E-04 | None | 0 | 0 | None | 0 | None | 0 | 4.77E-05 | 1.44051E-04 |
| G/R | rs763560084 |
-0.852 | 1.0 | N | 0.857 | 0.421 | 0.658847598183 | gnomAD-3.1.2 | 8.54E-05 | None | None | None | None | N | None | 4.83E-05 | 5.23903E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 9.5511E-04 |
| G/R | rs763560084 |
-0.852 | 1.0 | N | 0.857 | 0.421 | 0.658847598183 | gnomAD-4.0.0 | 5.35185E-05 | None | None | None | None | N | None | 2.67344E-05 | 3.01973E-04 | None | 0 | 0 | None | 0 | 0 | 4.76281E-05 | 0 | 1.60922E-04 |
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 | 0.3705 | ambiguous | 0.3878 | ambiguous | -0.811 | Destabilizing | 0.998 | D | 0.582 | neutral | D | 0.525148117 | None | None | N |
| G/C | 0.6576 | likely_pathogenic | 0.6977 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.527176033 | None | None | N |
| G/D | 0.8677 | likely_pathogenic | 0.8762 | pathogenic | -2.023 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | N | 0.50566422 | None | None | N |
| G/E | 0.8592 | likely_pathogenic | 0.8538 | pathogenic | -2.099 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/F | 0.8927 | likely_pathogenic | 0.9147 | pathogenic | -1.268 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/H | 0.922 | likely_pathogenic | 0.933 | pathogenic | -1.409 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| G/I | 0.8302 | likely_pathogenic | 0.8341 | pathogenic | -0.517 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/K | 0.9473 | likely_pathogenic | 0.9395 | pathogenic | -1.395 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/L | 0.8099 | likely_pathogenic | 0.8109 | pathogenic | -0.517 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/M | 0.8714 | likely_pathogenic | 0.8788 | pathogenic | -0.368 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/N | 0.8472 | likely_pathogenic | 0.8533 | pathogenic | -1.121 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| G/P | 0.9885 | likely_pathogenic | 0.9838 | pathogenic | -0.578 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| G/Q | 0.8832 | likely_pathogenic | 0.8778 | pathogenic | -1.39 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/R | 0.903 | likely_pathogenic | 0.9014 | pathogenic | -1.012 | Destabilizing | 1.0 | D | 0.857 | deleterious | N | 0.50805782 | None | None | N |
| G/S | 0.2547 | likely_benign | 0.2727 | benign | -1.229 | Destabilizing | 0.991 | D | 0.563 | neutral | N | 0.46979126 | None | None | N |
| G/T | 0.6559 | likely_pathogenic | 0.6687 | pathogenic | -1.254 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/V | 0.7571 | likely_pathogenic | 0.7652 | pathogenic | -0.578 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.526669054 | None | None | N |
| G/W | 0.8815 | likely_pathogenic | 0.9152 | pathogenic | -1.604 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| G/Y | 0.8621 | likely_pathogenic | 0.8938 | pathogenic | -1.226 | Destabilizing | 1.0 | D | 0.848 | 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.