Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5707 | 17344;17345;17346 | chr2:178731756;178731755;178731754 | chr2:179596483;179596482;179596481 |
| N2AB | 5390 | 16393;16394;16395 | chr2:178731756;178731755;178731754 | chr2:179596483;179596482;179596481 |
| N2A | 4463 | 13612;13613;13614 | chr2:178731756;178731755;178731754 | chr2:179596483;179596482;179596481 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/H | rs533492533  |
-2.42 | 1.0 | D | 0.794 | 0.862 | 0.757359631849 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| Y/H | rs533492533 |
-2.42 | 1.0 | D | 0.794 | 0.862 | 0.757359631849 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06954E-04 | 0 |
| Y/H | rs533492533 |
-2.42 | 1.0 | D | 0.794 | 0.862 | 0.757359631849 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| Y/H | rs533492533 |
-2.42 | 1.0 | D | 0.794 | 0.862 | 0.757359631849 | gnomAD-4.0.0 | 3.09832E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.49016E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9977 | likely_pathogenic | 0.9968 | pathogenic | -2.354 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| Y/C | 0.9806 | likely_pathogenic | 0.9733 | pathogenic | -1.764 | Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.641582998 | None | None | N |
| Y/D | 0.9987 | likely_pathogenic | 0.9981 | pathogenic | -3.263 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.641582998 | None | None | N |
| Y/E | 0.9992 | likely_pathogenic | 0.9988 | pathogenic | -3.019 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| Y/F | 0.271 | likely_benign | 0.2467 | benign | -0.906 | Destabilizing | 0.999 | D | 0.697 | prob.neutral | D | 0.578071683 | None | None | N |
| Y/G | 0.9948 | likely_pathogenic | 0.9936 | pathogenic | -2.799 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| Y/H | 0.9887 | likely_pathogenic | 0.983 | pathogenic | -2.273 | Highly Destabilizing | 1.0 | D | 0.794 | deleterious | D | 0.641381194 | None | None | N |
| Y/I | 0.9278 | likely_pathogenic | 0.8956 | pathogenic | -0.871 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| Y/K | 0.999 | likely_pathogenic | 0.9985 | pathogenic | -2.159 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| Y/L | 0.8923 | likely_pathogenic | 0.8599 | pathogenic | -0.871 | Destabilizing | 0.999 | D | 0.789 | deleterious | None | None | None | None | N |
| Y/M | 0.9752 | likely_pathogenic | 0.9683 | pathogenic | -0.954 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| Y/N | 0.9893 | likely_pathogenic | 0.9838 | pathogenic | -3.143 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.641582998 | None | None | N |
| Y/P | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -1.382 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| Y/Q | 0.9991 | likely_pathogenic | 0.9986 | pathogenic | -2.666 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| Y/R | 0.9974 | likely_pathogenic | 0.9964 | pathogenic | -2.454 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| Y/S | 0.9954 | likely_pathogenic | 0.9939 | pathogenic | -3.37 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.641582998 | None | None | N |
| Y/T | 0.9972 | likely_pathogenic | 0.9959 | pathogenic | -2.976 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| Y/V | 0.9285 | likely_pathogenic | 0.9016 | pathogenic | -1.382 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| Y/W | 0.9227 | likely_pathogenic | 0.8999 | pathogenic | -0.348 | Destabilizing | 1.0 | D | 0.787 | 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.