Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27932 | 84019;84020;84021 | chr2:178562338;178562337;178562336 | chr2:179427065;179427064;179427063 |
| N2AB | 26291 | 79096;79097;79098 | chr2:178562338;178562337;178562336 | chr2:179427065;179427064;179427063 |
| N2A | 25364 | 76315;76316;76317 | chr2:178562338;178562337;178562336 | chr2:179427065;179427064;179427063 |
| N2B | 18867 | 56824;56825;56826 | chr2:178562338;178562337;178562336 | chr2:179427065;179427064;179427063 |
| Novex-1 | 18992 | 57199;57200;57201 | chr2:178562338;178562337;178562336 | chr2:179427065;179427064;179427063 |
| Novex-2 | 19059 | 57400;57401;57402 | chr2:178562338;178562337;178562336 | chr2:179427065;179427064;179427063 |
| 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/C | None | None | 1.0 | D | 0.875 | 0.846 | 0.928220604089 | gnomAD-4.0.0 | 1.37016E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80001E-06 | 0 | 0 |
| Y/H | rs759559839  |
-2.187 | 1.0 | D | 0.84 | 0.857 | 0.851379070604 | gnomAD-2.1.1 | 2.85E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.34522E-04 | None | 0 | 0 | 0 |
| Y/H | rs759559839 |
-2.187 | 1.0 | D | 0.84 | 0.857 | 0.851379070604 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07987E-04 | 0 |
| Y/H | rs759559839 |
-2.187 | 1.0 | D | 0.84 | 0.857 | 0.851379070604 | gnomAD-4.0.0 | 8.06849E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43646E-04 | 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 | 0.9785 | likely_pathogenic | 0.9821 | pathogenic | -3.042 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| Y/C | 0.8523 | likely_pathogenic | 0.903 | pathogenic | -1.757 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.648790771 | None | None | N |
| Y/D | 0.9903 | likely_pathogenic | 0.9902 | pathogenic | -3.329 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.68616928 | None | None | N |
| Y/E | 0.9962 | likely_pathogenic | 0.9966 | pathogenic | -3.139 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| Y/F | 0.2474 | likely_benign | 0.295 | benign | -1.016 | Destabilizing | 0.999 | D | 0.766 | deleterious | D | 0.633276818 | None | None | N |
| Y/G | 0.9625 | likely_pathogenic | 0.9666 | pathogenic | -3.452 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| Y/H | 0.9273 | likely_pathogenic | 0.9518 | pathogenic | -1.955 | Destabilizing | 1.0 | D | 0.84 | deleterious | D | 0.660631168 | None | None | N |
| Y/I | 0.9229 | likely_pathogenic | 0.9326 | pathogenic | -1.688 | Destabilizing | 0.999 | D | 0.873 | deleterious | None | None | None | None | N |
| Y/K | 0.993 | likely_pathogenic | 0.9943 | pathogenic | -2.08 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| Y/L | 0.884 | likely_pathogenic | 0.8963 | pathogenic | -1.688 | Destabilizing | 0.997 | D | 0.818 | deleterious | None | None | None | None | N |
| Y/M | 0.9305 | likely_pathogenic | 0.9467 | pathogenic | -1.411 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| Y/N | 0.9118 | likely_pathogenic | 0.9253 | pathogenic | -2.812 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | D | 0.685967475 | None | None | N |
| Y/P | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -2.153 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| Y/Q | 0.9927 | likely_pathogenic | 0.995 | pathogenic | -2.608 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| Y/R | 0.9844 | likely_pathogenic | 0.9875 | pathogenic | -1.772 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| Y/S | 0.9653 | likely_pathogenic | 0.9721 | pathogenic | -3.185 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | D | 0.68616928 | None | None | N |
| Y/T | 0.9777 | likely_pathogenic | 0.9814 | pathogenic | -2.879 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| Y/V | 0.8601 | likely_pathogenic | 0.8762 | pathogenic | -2.153 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| Y/W | 0.8654 | likely_pathogenic | 0.8956 | pathogenic | -0.362 | Destabilizing | 1.0 | D | 0.821 | 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.