Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9193 | 27802;27803;27804 | chr2:178712345;178712344;178712343 | chr2:179577072;179577071;179577070 |
| N2AB | 8876 | 26851;26852;26853 | chr2:178712345;178712344;178712343 | chr2:179577072;179577071;179577070 |
| N2A | 7949 | 24070;24071;24072 | chr2:178712345;178712344;178712343 | chr2:179577072;179577071;179577070 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/H | None | None | 1.0 | N | 0.778 | 0.505 | 0.552698843619 | gnomAD-4.0.0 | 6.84252E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65651E-05 |
| D/N | rs2076787614  |
None | 0.999 | N | 0.773 | 0.376 | 0.541512316009 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92604E-04 | None | 0 | 0 | 0 | 0 | 0 |
| D/Y | rs2076787614 |
None | 1.0 | D | 0.846 | 0.545 | 0.560642594899 | gnomAD-4.0.0 | 2.05276E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69855E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.5204 | ambiguous | 0.5138 | ambiguous | -0.447 | Destabilizing | 0.996 | D | 0.735 | prob.delet. | N | 0.472200299 | None | None | N |
| D/C | 0.9585 | likely_pathogenic | 0.9529 | pathogenic | -0.216 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| D/E | 0.5921 | likely_pathogenic | 0.5657 | pathogenic | -0.643 | Destabilizing | 0.999 | D | 0.563 | neutral | N | 0.520012889 | None | None | N |
| D/F | 0.9475 | likely_pathogenic | 0.9379 | pathogenic | 0.158 | Stabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| D/G | 0.5219 | ambiguous | 0.508 | ambiguous | -0.857 | Destabilizing | 0.434 | N | 0.411 | neutral | N | 0.516776413 | None | None | N |
| D/H | 0.8637 | likely_pathogenic | 0.8353 | pathogenic | -0.208 | Destabilizing | 1.0 | D | 0.778 | deleterious | N | 0.510028463 | None | None | N |
| D/I | 0.9118 | likely_pathogenic | 0.8845 | pathogenic | 0.656 | Stabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| D/K | 0.9347 | likely_pathogenic | 0.9159 | pathogenic | -0.477 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| D/L | 0.907 | likely_pathogenic | 0.894 | pathogenic | 0.656 | Stabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| D/M | 0.9652 | likely_pathogenic | 0.9556 | pathogenic | 1.097 | Stabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| D/N | 0.4014 | ambiguous | 0.3604 | ambiguous | -0.979 | Destabilizing | 0.999 | D | 0.773 | deleterious | N | 0.494037349 | None | None | N |
| D/P | 0.9956 | likely_pathogenic | 0.9944 | pathogenic | 0.315 | Stabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| D/Q | 0.8869 | likely_pathogenic | 0.8632 | pathogenic | -0.773 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| D/R | 0.9465 | likely_pathogenic | 0.9335 | pathogenic | -0.297 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| D/S | 0.4826 | ambiguous | 0.4559 | ambiguous | -1.312 | Destabilizing | 0.997 | D | 0.697 | prob.neutral | None | None | None | None | N |
| D/T | 0.7921 | likely_pathogenic | 0.7431 | pathogenic | -0.966 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| D/V | 0.7541 | likely_pathogenic | 0.7082 | pathogenic | 0.315 | Stabilizing | 1.0 | D | 0.835 | deleterious | D | 0.528304298 | None | None | N |
| D/W | 0.9943 | likely_pathogenic | 0.9931 | pathogenic | 0.325 | Stabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| D/Y | 0.7579 | likely_pathogenic | 0.7256 | pathogenic | 0.407 | Stabilizing | 1.0 | D | 0.846 | deleterious | D | 0.539742513 | 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.