Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16353 | 49282;49283;49284 | chr2:178614340;178614339;178614338 | chr2:179479067;179479066;179479065 |
| N2AB | 14712 | 44359;44360;44361 | chr2:178614340;178614339;178614338 | chr2:179479067;179479066;179479065 |
| N2A | 13785 | 41578;41579;41580 | chr2:178614340;178614339;178614338 | chr2:179479067;179479066;179479065 |
| N2B | 7288 | 22087;22088;22089 | chr2:178614340;178614339;178614338 | chr2:179479067;179479066;179479065 |
| Novex-1 | 7413 | 22462;22463;22464 | chr2:178614340;178614339;178614338 | chr2:179479067;179479066;179479065 |
| Novex-2 | 7480 | 22663;22664;22665 | chr2:178614340;178614339;178614338 | chr2:179479067;179479066;179479065 |
| 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 | rs374866935  |
-0.779 | 1.0 | D | 0.859 | 0.484 | 0.586935410679 | gnomAD-2.1.1 | 2.44E-05 | None | None | None | None | N | None | 1.30174E-04 | 0 | None | 0 | 0 | None | 9.85E-05 | None | 0 | 9.01E-06 | 0 |
| G/R | rs374866935 |
-0.779 | 1.0 | D | 0.859 | 0.484 | 0.586935410679 | gnomAD-3.1.2 | 3.3E-05 | None | None | None | None | N | None | 4.85E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.95E-05 | 2.08073E-04 | 0 |
| G/R | rs374866935 |
-0.779 | 1.0 | D | 0.859 | 0.484 | 0.586935410679 | gnomAD-4.0.0 | 3.22601E-05 | None | None | None | None | N | None | 4.01811E-05 | 1.67235E-05 | None | 0 | 0 | None | 0 | 0 | 2.88361E-05 | 1.31967E-04 | 3.20595E-05 |
| G/V | None | None | 1.0 | D | 0.869 | 0.496 | 0.588470723157 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.624 | likely_pathogenic | 0.4925 | ambiguous | -0.807 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | D | 0.635938814 | None | None | N |
| G/C | 0.9005 | likely_pathogenic | 0.8371 | pathogenic | -1.14 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| G/D | 0.9495 | likely_pathogenic | 0.9267 | pathogenic | -2.217 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| G/E | 0.9546 | likely_pathogenic | 0.9228 | pathogenic | -2.247 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.574705647 | None | None | N |
| G/F | 0.9795 | likely_pathogenic | 0.966 | pathogenic | -1.114 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/H | 0.9868 | likely_pathogenic | 0.9763 | pathogenic | -1.43 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/I | 0.9779 | likely_pathogenic | 0.9504 | pathogenic | -0.369 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/K | 0.989 | likely_pathogenic | 0.9765 | pathogenic | -1.328 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| G/L | 0.9421 | likely_pathogenic | 0.8877 | pathogenic | -0.369 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/M | 0.9734 | likely_pathogenic | 0.9463 | pathogenic | -0.338 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| G/N | 0.9522 | likely_pathogenic | 0.9194 | pathogenic | -1.177 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| G/P | 0.9978 | likely_pathogenic | 0.9964 | pathogenic | -0.477 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/Q | 0.9697 | likely_pathogenic | 0.9453 | pathogenic | -1.383 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/R | 0.9777 | likely_pathogenic | 0.9577 | pathogenic | -1.031 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.71222904 | None | None | N |
| G/S | 0.5209 | ambiguous | 0.4159 | ambiguous | -1.321 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| G/T | 0.8961 | likely_pathogenic | 0.8112 | pathogenic | -1.292 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| G/V | 0.9569 | likely_pathogenic | 0.9072 | pathogenic | -0.477 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.653111027 | None | None | N |
| G/W | 0.9799 | likely_pathogenic | 0.9696 | pathogenic | -1.541 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| G/Y | 0.9812 | likely_pathogenic | 0.9659 | pathogenic | -1.124 | Destabilizing | 1.0 | D | 0.853 | 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.