Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17655 | 53188;53189;53190 | chr2:178607824;178607823;178607822 | chr2:179472551;179472550;179472549 |
| N2AB | 16014 | 48265;48266;48267 | chr2:178607824;178607823;178607822 | chr2:179472551;179472550;179472549 |
| N2A | 15087 | 45484;45485;45486 | chr2:178607824;178607823;178607822 | chr2:179472551;179472550;179472549 |
| N2B | 8590 | 25993;25994;25995 | chr2:178607824;178607823;178607822 | chr2:179472551;179472550;179472549 |
| Novex-1 | 8715 | 26368;26369;26370 | chr2:178607824;178607823;178607822 | chr2:179472551;179472550;179472549 |
| Novex-2 | 8782 | 26569;26570;26571 | chr2:178607824;178607823;178607822 | chr2:179472551;179472550;179472549 |
| 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/H | None | None | 1.0 | N | 0.831 | 0.427 | 0.66141328993 | gnomAD-4.0.0 | 6.84523E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99777E-07 | 0 | 0 |
| P/R | None | None | 1.0 | N | 0.873 | 0.452 | 0.667457374772 | gnomAD-4.0.0 | 2.73809E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59911E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.072 | likely_benign | 0.0676 | benign | -1.425 | Destabilizing | 1.0 | D | 0.763 | deleterious | N | 0.467105007 | None | None | N |
| P/C | 0.4639 | ambiguous | 0.4373 | ambiguous | -0.916 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| P/D | 0.7304 | likely_pathogenic | 0.7384 | pathogenic | -1.409 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/E | 0.532 | ambiguous | 0.5259 | ambiguous | -1.473 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/F | 0.5173 | ambiguous | 0.487 | ambiguous | -1.277 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/G | 0.4742 | ambiguous | 0.4601 | ambiguous | -1.664 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| P/H | 0.2926 | likely_benign | 0.2849 | benign | -1.122 | Destabilizing | 1.0 | D | 0.831 | deleterious | N | 0.50402476 | None | None | N |
| P/I | 0.4328 | ambiguous | 0.4053 | ambiguous | -0.894 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| P/K | 0.4923 | ambiguous | 0.486 | ambiguous | -1.165 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| P/L | 0.2347 | likely_benign | 0.2071 | benign | -0.894 | Destabilizing | 1.0 | D | 0.835 | deleterious | N | 0.501996844 | None | None | N |
| P/M | 0.4725 | ambiguous | 0.4421 | ambiguous | -0.634 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| P/N | 0.667 | likely_pathogenic | 0.6621 | pathogenic | -0.871 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| P/Q | 0.3256 | likely_benign | 0.3062 | benign | -1.168 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| P/R | 0.3126 | likely_benign | 0.2961 | benign | -0.51 | Destabilizing | 1.0 | D | 0.873 | deleterious | N | 0.510012241 | None | None | N |
| P/S | 0.188 | likely_benign | 0.1768 | benign | -1.292 | Destabilizing | 1.0 | D | 0.811 | deleterious | N | 0.483007216 | None | None | N |
| P/T | 0.1885 | likely_benign | 0.1773 | benign | -1.265 | Destabilizing | 1.0 | D | 0.812 | deleterious | N | 0.49512399 | None | None | N |
| P/V | 0.2608 | likely_benign | 0.2443 | benign | -1.037 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| P/W | 0.6871 | likely_pathogenic | 0.6525 | pathogenic | -1.351 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| P/Y | 0.5338 | ambiguous | 0.5051 | ambiguous | -1.114 | Destabilizing | 1.0 | D | 0.849 | 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.