Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35214 | 105865;105866;105867 | chr2:178530975;178530974;178530973 | chr2:179395702;179395701;179395700 |
| N2AB | 33573 | 100942;100943;100944 | chr2:178530975;178530974;178530973 | chr2:179395702;179395701;179395700 |
| N2A | 32646 | 98161;98162;98163 | chr2:178530975;178530974;178530973 | chr2:179395702;179395701;179395700 |
| N2B | 26149 | 78670;78671;78672 | chr2:178530975;178530974;178530973 | chr2:179395702;179395701;179395700 |
| Novex-1 | 26274 | 79045;79046;79047 | chr2:178530975;178530974;178530973 | chr2:179395702;179395701;179395700 |
| Novex-2 | 26341 | 79246;79247;79248 | chr2:178530975;178530974;178530973 | chr2:179395702;179395701;179395700 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs560557634  |
-1.156 | 0.999 | N | 0.584 | 0.55 | 0.244539031024 | gnomAD-2.1.1 | 2.81E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.89408E-04 | None | 0 | None | 0 | 0 | 0 |
| F/L | rs560557634 |
-1.156 | 0.999 | N | 0.584 | 0.55 | 0.244539031024 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 7.70119E-04 | None | 0 | 0 | 0 | 0 | 0 |
| F/L | rs560557634 |
-1.156 | 0.999 | N | 0.584 | 0.55 | 0.244539031024 | 1000 genomes | 7.98722E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 4E-03 | 0 | None | None | None | 0 | None |
| F/L | rs560557634 |
-1.156 | 0.999 | N | 0.584 | 0.55 | 0.244539031024 | gnomAD-4.0.0 | 1.11527E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.78771E-04 | None | 0 | 0 | 0 | 0 | 1.60026E-05 |
| F/V | None | None | 1.0 | N | 0.811 | 0.571 | 0.728347197671 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9836 | likely_pathogenic | 0.9831 | pathogenic | -2.145 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| F/C | 0.9237 | likely_pathogenic | 0.9363 | pathogenic | -1.643 | Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.52824837 | None | None | N |
| F/D | 0.9985 | likely_pathogenic | 0.9987 | pathogenic | -2.571 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| F/E | 0.9984 | likely_pathogenic | 0.9987 | pathogenic | -2.332 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| F/G | 0.9912 | likely_pathogenic | 0.9918 | pathogenic | -2.623 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| F/H | 0.9929 | likely_pathogenic | 0.9939 | pathogenic | -1.58 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| F/I | 0.8008 | likely_pathogenic | 0.8358 | pathogenic | -0.597 | Destabilizing | 1.0 | D | 0.746 | deleterious | N | 0.449131439 | None | None | N |
| F/K | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -1.668 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| F/L | 0.9873 | likely_pathogenic | 0.9892 | pathogenic | -0.597 | Destabilizing | 0.999 | D | 0.584 | neutral | N | 0.446936496 | None | None | N |
| F/M | 0.929 | likely_pathogenic | 0.9314 | pathogenic | -0.6 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| F/N | 0.9945 | likely_pathogenic | 0.9949 | pathogenic | -2.231 | Highly Destabilizing | 1.0 | D | 0.93 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.123 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| F/Q | 0.9977 | likely_pathogenic | 0.998 | pathogenic | -2.029 | Highly Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| F/R | 0.9969 | likely_pathogenic | 0.9975 | pathogenic | -1.559 | Destabilizing | 1.0 | D | 0.93 | deleterious | None | None | None | None | N |
| F/S | 0.9905 | likely_pathogenic | 0.9913 | pathogenic | -2.87 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | N | 0.520898323 | None | None | N |
| F/T | 0.9895 | likely_pathogenic | 0.9897 | pathogenic | -2.497 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| F/V | 0.7994 | likely_pathogenic | 0.8267 | pathogenic | -1.123 | Destabilizing | 1.0 | D | 0.811 | deleterious | N | 0.452227672 | None | None | N |
| F/W | 0.9462 | likely_pathogenic | 0.9599 | pathogenic | 0.006 | Stabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| F/Y | 0.6891 | likely_pathogenic | 0.7405 | pathogenic | -0.334 | Destabilizing | 0.999 | D | 0.603 | neutral | N | 0.503910073 | 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.