Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9226 | 27901;27902;27903 | chr2:178712154;178712153;178712152 | chr2:179576881;179576880;179576879 |
| N2AB | 8909 | 26950;26951;26952 | chr2:178712154;178712153;178712152 | chr2:179576881;179576880;179576879 |
| N2A | 7982 | 24169;24170;24171 | chr2:178712154;178712153;178712152 | chr2:179576881;179576880;179576879 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | rs372820178  |
-1.502 | 1.0 | D | 0.919 | 0.693 | None | gnomAD-2.1.1 | 2.86E-05 | None | None | disulfide | None | N | None | 8.3E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.91E-05 | 1.4041E-04 |
| C/R | rs372820178 |
-1.502 | 1.0 | D | 0.919 | 0.693 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | disulfide | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 7.35E-05 | 0 | 0 |
| C/R | rs372820178 |
-1.502 | 1.0 | D | 0.919 | 0.693 | None | 1000 genomes | 1.99681E-04 | None | None | disulfide | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| C/R | rs372820178 |
-1.502 | 1.0 | D | 0.919 | 0.693 | None | gnomAD-4.0.0 | 1.23311E-04 | None | None | disulfide | None | N | None | 3.99861E-05 | 0 | None | 0 | 0 | None | 3.12412E-05 | 0 | 1.61895E-04 | 0 | 4.80123E-05 |
| C/Y | rs369108107 |
-1.557 | 1.0 | D | 0.915 | 0.585 | None | gnomAD-2.1.1 | 8.05E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| C/Y | rs369108107 |
-1.557 | 1.0 | D | 0.915 | 0.585 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | disulfide | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| C/Y | rs369108107 |
-1.557 | 1.0 | D | 0.915 | 0.585 | None | gnomAD-4.0.0 | 9.29559E-06 | None | None | disulfide | None | N | None | 5.33988E-05 | 0 | None | 0 | 0 | None | 0 | 4.93259E-04 | 3.39048E-06 | 0 | 6.40471E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.8856 | likely_pathogenic | 0.849 | pathogenic | -1.695 | Destabilizing | 0.998 | D | 0.723 | prob.delet. | None | None | disulfide | None | N |
| C/D | 0.9988 | likely_pathogenic | 0.9992 | pathogenic | -1.609 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -1.373 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | disulfide | None | N |
| C/F | 0.7265 | likely_pathogenic | 0.7623 | pathogenic | -1.019 | Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.563724755 | disulfide | None | N |
| C/G | 0.6873 | likely_pathogenic | 0.7019 | pathogenic | -2.06 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | D | 0.537226709 | disulfide | None | N |
| C/H | 0.9949 | likely_pathogenic | 0.9964 | pathogenic | -2.266 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | disulfide | None | N |
| C/I | 0.8345 | likely_pathogenic | 0.8615 | pathogenic | -0.706 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9994 | likely_pathogenic | 0.9997 | pathogenic | -1.27 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | disulfide | None | N |
| C/L | 0.8555 | likely_pathogenic | 0.8668 | pathogenic | -0.706 | Destabilizing | 0.999 | D | 0.773 | deleterious | None | None | disulfide | None | N |
| C/M | 0.9347 | likely_pathogenic | 0.9446 | pathogenic | 0.1 | Stabilizing | 1.0 | D | 0.874 | deleterious | None | None | disulfide | None | N |
| C/N | 0.9933 | likely_pathogenic | 0.9943 | pathogenic | -1.86 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -1.013 | Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9975 | likely_pathogenic | 0.9983 | pathogenic | -1.392 | Destabilizing | 1.0 | D | 0.929 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9946 | likely_pathogenic | 0.9968 | pathogenic | -1.639 | Destabilizing | 1.0 | D | 0.919 | deleterious | D | 0.563978244 | disulfide | None | N |
| C/S | 0.9215 | likely_pathogenic | 0.9002 | pathogenic | -2.171 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.5456205 | disulfide | None | N |
| C/T | 0.9419 | likely_pathogenic | 0.9392 | pathogenic | -1.749 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | disulfide | None | N |
| C/V | 0.7357 | likely_pathogenic | 0.7543 | pathogenic | -1.013 | Destabilizing | 0.999 | D | 0.805 | deleterious | None | None | disulfide | None | N |
| C/W | 0.9745 | likely_pathogenic | 0.9844 | pathogenic | -1.427 | Destabilizing | 1.0 | D | 0.902 | deleterious | D | 0.563978244 | disulfide | None | N |
| C/Y | 0.9283 | likely_pathogenic | 0.9492 | pathogenic | -1.23 | Destabilizing | 1.0 | D | 0.915 | deleterious | D | 0.5456205 | disulfide | 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.