Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27172 | 81739;81740;81741 | chr2:178564618;178564617;178564616 | chr2:179429345;179429344;179429343 |
| N2AB | 25531 | 76816;76817;76818 | chr2:178564618;178564617;178564616 | chr2:179429345;179429344;179429343 |
| N2A | 24604 | 74035;74036;74037 | chr2:178564618;178564617;178564616 | chr2:179429345;179429344;179429343 |
| N2B | 18107 | 54544;54545;54546 | chr2:178564618;178564617;178564616 | chr2:179429345;179429344;179429343 |
| Novex-1 | 18232 | 54919;54920;54921 | chr2:178564618;178564617;178564616 | chr2:179429345;179429344;179429343 |
| Novex-2 | 18299 | 55120;55121;55122 | chr2:178564618;178564617;178564616 | chr2:179429345;179429344;179429343 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs1248956657  |
-0.832 | 1.0 | N | 0.815 | 0.516 | 0.321393169273 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/G | rs1248956657 |
-0.832 | 1.0 | N | 0.815 | 0.516 | 0.321393169273 | gnomAD-4.0.0 | 6.84328E-07 | None | None | None | None | N | None | 0 | 2.23724E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/V | None | None | 1.0 | D | 0.847 | 0.595 | 0.637347744031 | gnomAD-4.0.0 | 6.15895E-06 | None | None | None | None | N | None | 2.98954E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29678E-06 | 0 | 1.65706E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.3911 | ambiguous | 0.3863 | ambiguous | -0.632 | Destabilizing | 1.0 | D | 0.825 | deleterious | N | 0.5154112 | None | None | N |
| D/C | 0.8518 | likely_pathogenic | 0.8478 | pathogenic | -0.308 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| D/E | 0.4312 | ambiguous | 0.4178 | ambiguous | -0.738 | Destabilizing | 1.0 | D | 0.657 | neutral | N | 0.476378306 | None | None | N |
| D/F | 0.7958 | likely_pathogenic | 0.7824 | pathogenic | -0.318 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| D/G | 0.4483 | ambiguous | 0.4237 | ambiguous | -0.987 | Destabilizing | 1.0 | D | 0.815 | deleterious | N | 0.460396737 | None | None | N |
| D/H | 0.6464 | likely_pathogenic | 0.648 | pathogenic | -0.725 | Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.534275923 | None | None | N |
| D/I | 0.8236 | likely_pathogenic | 0.7995 | pathogenic | 0.306 | Stabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| D/K | 0.8594 | likely_pathogenic | 0.8454 | pathogenic | -0.599 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| D/L | 0.6892 | likely_pathogenic | 0.6652 | pathogenic | 0.306 | Stabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| D/M | 0.8625 | likely_pathogenic | 0.8531 | pathogenic | 0.773 | Stabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| D/N | 0.2923 | likely_benign | 0.2745 | benign | -0.951 | Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.491773536 | None | None | N |
| D/P | 0.9798 | likely_pathogenic | 0.9745 | pathogenic | 0.018 | Stabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| D/Q | 0.7326 | likely_pathogenic | 0.7136 | pathogenic | -0.807 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| D/R | 0.8868 | likely_pathogenic | 0.8661 | pathogenic | -0.472 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| D/S | 0.2387 | likely_benign | 0.2301 | benign | -1.237 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| D/T | 0.6876 | likely_pathogenic | 0.6559 | pathogenic | -0.95 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| D/V | 0.678 | likely_pathogenic | 0.6415 | pathogenic | 0.018 | Stabilizing | 1.0 | D | 0.847 | deleterious | D | 0.523515503 | None | None | N |
| D/W | 0.9755 | likely_pathogenic | 0.9759 | pathogenic | -0.183 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| D/Y | 0.4602 | ambiguous | 0.4595 | ambiguous | -0.101 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.523262013 | 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.