Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32124 | 96595;96596;96597 | chr2:178543603;178543602;178543601 | chr2:179408330;179408329;179408328 |
| N2AB | 30483 | 91672;91673;91674 | chr2:178543603;178543602;178543601 | chr2:179408330;179408329;179408328 |
| N2A | 29556 | 88891;88892;88893 | chr2:178543603;178543602;178543601 | chr2:179408330;179408329;179408328 |
| N2B | 23059 | 69400;69401;69402 | chr2:178543603;178543602;178543601 | chr2:179408330;179408329;179408328 |
| Novex-1 | 23184 | 69775;69776;69777 | chr2:178543603;178543602;178543601 | chr2:179408330;179408329;179408328 |
| Novex-2 | 23251 | 69976;69977;69978 | chr2:178543603;178543602;178543601 | chr2:179408330;179408329;179408328 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/L | None | None | 0.011 | N | 0.248 | 0.096 | 0.225215365344 | gnomAD-4.0.0 | 1.61278E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86071E-06 | 0 | 0 |
| I/T | rs779223056  |
-3.073 | 0.896 | N | 0.733 | 0.462 | 0.682544474797 | gnomAD-2.1.1 | 3.31E-05 | None | None | None | None | N | None | 0 | 5.82E-05 | None | 0 | 0 | None | 1.96747E-04 | None | 0 | 0 | 0 |
| I/T | rs779223056 |
-3.073 | 0.896 | N | 0.733 | 0.462 | 0.682544474797 | gnomAD-4.0.0 | 8.25783E-06 | None | None | None | None | N | None | 0 | 4.47567E-05 | None | 0 | 0 | None | 0 | 0 | 8.99706E-07 | 9.27988E-05 | 1.65832E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9179 | likely_pathogenic | 0.8863 | pathogenic | -2.601 | Highly Destabilizing | 0.851 | D | 0.736 | prob.delet. | None | None | None | None | N |
| I/C | 0.9491 | likely_pathogenic | 0.936 | pathogenic | -1.448 | Destabilizing | 0.999 | D | 0.777 | deleterious | None | None | None | None | N |
| I/D | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -3.259 | Highly Destabilizing | 0.996 | D | 0.881 | deleterious | None | None | None | None | N |
| I/E | 0.9986 | likely_pathogenic | 0.9982 | pathogenic | -2.925 | Highly Destabilizing | 0.988 | D | 0.875 | deleterious | None | None | None | None | N |
| I/F | 0.5734 | likely_pathogenic | 0.5238 | ambiguous | -1.572 | Destabilizing | 0.976 | D | 0.694 | prob.neutral | None | None | None | None | N |
| I/G | 0.9946 | likely_pathogenic | 0.9921 | pathogenic | -3.206 | Highly Destabilizing | 0.988 | D | 0.853 | deleterious | None | None | None | None | N |
| I/H | 0.998 | likely_pathogenic | 0.9974 | pathogenic | -3.005 | Highly Destabilizing | 0.999 | D | 0.885 | deleterious | None | None | None | None | N |
| I/K | 0.9973 | likely_pathogenic | 0.9965 | pathogenic | -1.931 | Destabilizing | 0.984 | D | 0.865 | deleterious | N | 0.499374541 | None | None | N |
| I/L | 0.12 | likely_benign | 0.1206 | benign | -0.766 | Destabilizing | 0.011 | N | 0.248 | neutral | N | 0.374107165 | None | None | N |
| I/M | 0.2148 | likely_benign | 0.1991 | benign | -0.84 | Destabilizing | 0.968 | D | 0.68 | prob.neutral | N | 0.480509817 | None | None | N |
| I/N | 0.9959 | likely_pathogenic | 0.995 | pathogenic | -2.73 | Highly Destabilizing | 0.996 | D | 0.88 | deleterious | None | None | None | None | N |
| I/P | 0.9978 | likely_pathogenic | 0.9972 | pathogenic | -1.371 | Destabilizing | 0.996 | D | 0.879 | deleterious | None | None | None | None | N |
| I/Q | 0.997 | likely_pathogenic | 0.9962 | pathogenic | -2.302 | Highly Destabilizing | 0.996 | D | 0.895 | deleterious | None | None | None | None | N |
| I/R | 0.9959 | likely_pathogenic | 0.9943 | pathogenic | -2.163 | Highly Destabilizing | 0.984 | D | 0.875 | deleterious | N | 0.499374541 | None | None | N |
| I/S | 0.9897 | likely_pathogenic | 0.9859 | pathogenic | -3.184 | Highly Destabilizing | 0.988 | D | 0.793 | deleterious | None | None | None | None | N |
| I/T | 0.9746 | likely_pathogenic | 0.9656 | pathogenic | -2.681 | Highly Destabilizing | 0.896 | D | 0.733 | prob.delet. | N | 0.499121052 | None | None | N |
| I/V | 0.0871 | likely_benign | 0.082 | benign | -1.371 | Destabilizing | 0.026 | N | 0.239 | neutral | N | 0.457963487 | None | None | N |
| I/W | 0.9952 | likely_pathogenic | 0.9936 | pathogenic | -1.925 | Destabilizing | 0.999 | D | 0.863 | deleterious | None | None | None | None | N |
| I/Y | 0.9781 | likely_pathogenic | 0.9712 | pathogenic | -1.742 | Destabilizing | 0.988 | D | 0.759 | 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.