Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 8832 | 26719;26720;26721 | chr2:178714164;178714163;178714162 | chr2:179578891;179578890;179578889 |
N2AB | 8515 | 25768;25769;25770 | chr2:178714164;178714163;178714162 | chr2:179578891;179578890;179578889 |
N2A | 7588 | 22987;22988;22989 | chr2:178714164;178714163;178714162 | chr2:179578891;179578890;179578889 |
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 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
I/S | None | None | 0.998 | D | 0.823 | 0.736 | 0.908569977246 | gnomAD-4.0.0 | 1.37166E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80133E-06 | 0 | 0 |
I/T | rs748198284 | -2.496 | 0.998 | D | 0.808 | 0.704 | 0.808517472782 | gnomAD-2.1.1 | 3.25E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.47678E-04 | None | 0 | None | 0 | 0 | 0 |
I/T | rs748198284 | -2.496 | 0.998 | D | 0.808 | 0.704 | 0.808517472782 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
I/T | rs748198284 | -2.496 | 0.998 | D | 0.808 | 0.704 | 0.808517472782 | gnomAD-4.0.0 | 1.49047E-05 | None | None | None | None | N | None | 1.34023E-05 | 0 | None | 0 | 1.7842E-04 | None | 0 | 0 | 1.27301E-05 | 0 | 0 |
I/V | rs72648989 | -1.448 | 0.91 | N | 0.546 | 0.144 | None | gnomAD-2.1.1 | 7.57335E-04 | None | None | None | None | N | None | 2.90964E-04 | 1.72315E-04 | None | 0 | 0 | None | 9.83251E-04 | None | 4.00994E-04 | 1.19407E-03 | 8.51789E-04 |
I/V | rs72648989 | -1.448 | 0.91 | N | 0.546 | 0.144 | None | gnomAD-3.1.2 | 8.01809E-04 | None | None | None | None | N | None | 3.61969E-04 | 1.96489E-04 | 0 | 0 | 0 | None | 2.82752E-04 | 0 | 1.44058E-03 | 6.21375E-04 | 0 |
I/V | rs72648989 | -1.448 | 0.91 | N | 0.546 | 0.144 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
I/V | rs72648989 | -1.448 | 0.91 | N | 0.546 | 0.144 | None | gnomAD-4.0.0 | 1.39471E-03 | None | None | None | None | N | None | 3.34439E-04 | 1.84657E-04 | None | 0 | 0 | None | 5.31416E-04 | 9.94365E-04 | 1.71177E-03 | 1.07565E-03 | 8.98934E-04 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
I/A | 0.5066 | ambiguous | 0.6928 | pathogenic | -2.346 | Highly Destabilizing | 0.985 | D | 0.739 | prob.delet. | None | None | None | None | N |
I/C | 0.9301 | likely_pathogenic | 0.9644 | pathogenic | -1.712 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
I/D | 0.982 | likely_pathogenic | 0.9929 | pathogenic | -2.693 | Highly Destabilizing | 0.999 | D | 0.878 | deleterious | None | None | None | None | N |
I/E | 0.956 | likely_pathogenic | 0.9796 | pathogenic | -2.591 | Highly Destabilizing | 0.999 | D | 0.879 | deleterious | None | None | None | None | N |
I/F | 0.3427 | ambiguous | 0.4437 | ambiguous | -1.525 | Destabilizing | 0.071 | N | 0.338 | neutral | N | 0.493978294 | None | None | N |
I/G | 0.9393 | likely_pathogenic | 0.9738 | pathogenic | -2.771 | Highly Destabilizing | 0.999 | D | 0.864 | deleterious | None | None | None | None | N |
I/H | 0.9467 | likely_pathogenic | 0.9742 | pathogenic | -2.094 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
I/K | 0.8937 | likely_pathogenic | 0.9392 | pathogenic | -1.747 | Destabilizing | 0.999 | D | 0.877 | deleterious | None | None | None | None | N |
I/L | 0.2411 | likely_benign | 0.3203 | benign | -1.172 | Destabilizing | 0.689 | D | 0.5 | neutral | N | 0.497661881 | None | None | N |
I/M | 0.1902 | likely_benign | 0.245 | benign | -1.079 | Destabilizing | 0.998 | D | 0.697 | prob.neutral | D | 0.547761591 | None | None | N |
I/N | 0.8594 | likely_pathogenic | 0.9266 | pathogenic | -1.821 | Destabilizing | 0.998 | D | 0.867 | deleterious | D | 0.549029039 | None | None | N |
I/P | 0.9206 | likely_pathogenic | 0.9644 | pathogenic | -1.54 | Destabilizing | 0.999 | D | 0.873 | deleterious | None | None | None | None | N |
I/Q | 0.9291 | likely_pathogenic | 0.9615 | pathogenic | -1.905 | Destabilizing | 0.999 | D | 0.881 | deleterious | None | None | None | None | N |
I/R | 0.8355 | likely_pathogenic | 0.9082 | pathogenic | -1.231 | Destabilizing | 0.999 | D | 0.869 | deleterious | None | None | None | None | N |
I/S | 0.7404 | likely_pathogenic | 0.8629 | pathogenic | -2.427 | Highly Destabilizing | 0.998 | D | 0.823 | deleterious | D | 0.537419244 | None | None | N |
I/T | 0.4237 | ambiguous | 0.6426 | pathogenic | -2.207 | Highly Destabilizing | 0.998 | D | 0.808 | deleterious | D | 0.537165755 | None | None | N |
I/V | 0.0743 | likely_benign | 0.0918 | benign | -1.54 | Destabilizing | 0.91 | D | 0.546 | neutral | N | 0.488507621 | None | None | N |
I/W | 0.9471 | likely_pathogenic | 0.9731 | pathogenic | -1.794 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
I/Y | 0.8679 | likely_pathogenic | 0.9242 | pathogenic | -1.554 | Destabilizing | 0.983 | D | 0.808 | 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.