Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18360 | 55303;55304;55305 | chr2:178602324;178602323;178602322 | chr2:179467051;179467050;179467049 |
| N2AB | 16719 | 50380;50381;50382 | chr2:178602324;178602323;178602322 | chr2:179467051;179467050;179467049 |
| N2A | 15792 | 47599;47600;47601 | chr2:178602324;178602323;178602322 | chr2:179467051;179467050;179467049 |
| N2B | 9295 | 28108;28109;28110 | chr2:178602324;178602323;178602322 | chr2:179467051;179467050;179467049 |
| Novex-1 | 9420 | 28483;28484;28485 | chr2:178602324;178602323;178602322 | chr2:179467051;179467050;179467049 |
| Novex-2 | 9487 | 28684;28685;28686 | chr2:178602324;178602323;178602322 | chr2:179467051;179467050;179467049 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | None | None | 1.0 | N | 0.72 | 0.374 | 0.339074221408 | gnomAD-4.0.0 | 1.59321E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86156E-06 | 0 | 0 |
| P/L | rs192788942  |
-0.788 | 1.0 | N | 0.819 | 0.477 | None | gnomAD-2.1.1 | 1.6111E-04 | None | None | None | None | N | None | 1.6973E-03 | 1.13398E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs192788942 |
-0.788 | 1.0 | N | 0.819 | 0.477 | None | gnomAD-3.1.2 | 4.86925E-04 | None | None | None | None | N | None | 1.7632E-03 | 6.57E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs192788942 |
-0.788 | 1.0 | N | 0.819 | 0.477 | None | 1000 genomes | 7.98722E-04 | None | None | None | None | N | None | 3E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| P/L | rs192788942 |
-0.788 | 1.0 | N | 0.819 | 0.477 | None | gnomAD-4.0.0 | 8.86623E-05 | None | None | None | None | N | None | 1.70812E-03 | 8.34474E-05 | None | 0 | 0 | None | 0 | 0 | 3.3918E-06 | 0 | 9.60953E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.085 | likely_benign | 0.0968 | benign | -1.504 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | N | 0.467927928 | None | None | N |
| P/C | 0.562 | ambiguous | 0.6045 | pathogenic | -0.951 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| P/D | 0.7235 | likely_pathogenic | 0.7845 | pathogenic | -1.617 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| P/E | 0.5467 | ambiguous | 0.6461 | pathogenic | -1.677 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| P/F | 0.5548 | ambiguous | 0.547 | ambiguous | -1.409 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/G | 0.4765 | ambiguous | 0.5302 | ambiguous | -1.748 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| P/H | 0.4055 | ambiguous | 0.4094 | ambiguous | -1.237 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| P/I | 0.4052 | ambiguous | 0.4652 | ambiguous | -0.951 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| P/K | 0.6134 | likely_pathogenic | 0.6925 | pathogenic | -1.165 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| P/L | 0.2536 | likely_benign | 0.3034 | benign | -0.951 | Destabilizing | 1.0 | D | 0.819 | deleterious | N | 0.506934368 | None | None | N |
| P/M | 0.4724 | ambiguous | 0.5496 | ambiguous | -0.627 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| P/N | 0.6612 | likely_pathogenic | 0.7105 | pathogenic | -0.897 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/Q | 0.4092 | ambiguous | 0.4835 | ambiguous | -1.205 | Destabilizing | 1.0 | D | 0.787 | deleterious | N | 0.520229684 | None | None | N |
| P/R | 0.463 | ambiguous | 0.539 | ambiguous | -0.531 | Destabilizing | 1.0 | D | 0.838 | deleterious | N | 0.490097561 | None | None | N |
| P/S | 0.235 | likely_benign | 0.2724 | benign | -1.316 | Destabilizing | 1.0 | D | 0.751 | deleterious | N | 0.485969731 | None | None | N |
| P/T | 0.2173 | likely_benign | 0.2687 | benign | -1.286 | Destabilizing | 1.0 | D | 0.747 | deleterious | N | 0.508455305 | None | None | N |
| P/V | 0.2828 | likely_benign | 0.3364 | benign | -1.103 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| P/W | 0.7513 | likely_pathogenic | 0.7514 | pathogenic | -1.5 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| P/Y | 0.5529 | ambiguous | 0.5166 | ambiguous | -1.245 | Destabilizing | 1.0 | D | 0.859 | 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.