Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7723 | 23392;23393;23394 | chr2:178720595;178720594;178720593 | chr2:179585322;179585321;179585320 |
| N2AB | 7406 | 22441;22442;22443 | chr2:178720595;178720594;178720593 | chr2:179585322;179585321;179585320 |
| N2A | 6479 | 19660;19661;19662 | chr2:178720595;178720594;178720593 | chr2:179585322;179585321;179585320 |
| 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 | rs2078198396  |
None | 1.0 | D | 0.899 | 0.764 | 0.879085847899 | gnomAD-4.0.0 | 1.36887E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16001E-05 | 1.65761E-05 |
| C/Y | None | None | 1.0 | D | 0.881 | 0.606 | 0.810734245384 | gnomAD-4.0.0 | 1.20032E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7983 | likely_pathogenic | 0.7344 | pathogenic | -1.704 | Destabilizing | 0.964 | D | 0.644 | neutral | None | None | disulfide | None | N |
| C/D | 0.9988 | likely_pathogenic | 0.9981 | pathogenic | -1.726 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -1.522 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | disulfide | None | N |
| C/F | 0.9131 | likely_pathogenic | 0.8788 | pathogenic | -1.169 | Destabilizing | 1.0 | D | 0.878 | deleterious | D | 0.546937173 | disulfide | None | N |
| C/G | 0.652 | likely_pathogenic | 0.586 | pathogenic | -2.042 | Highly Destabilizing | 0.986 | D | 0.875 | deleterious | N | 0.521591216 | disulfide | None | N |
| C/H | 0.9972 | likely_pathogenic | 0.9956 | pathogenic | -2.384 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | disulfide | None | N |
| C/I | 0.9266 | likely_pathogenic | 0.8938 | pathogenic | -0.802 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9997 | likely_pathogenic | 0.9994 | pathogenic | -1.329 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | disulfide | None | N |
| C/L | 0.916 | likely_pathogenic | 0.8911 | pathogenic | -0.802 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | disulfide | None | N |
| C/M | 0.945 | likely_pathogenic | 0.9243 | pathogenic | 0.187 | Stabilizing | 1.0 | D | 0.805 | deleterious | None | None | disulfide | None | N |
| C/N | 0.9934 | likely_pathogenic | 0.9896 | pathogenic | -1.826 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9993 | likely_pathogenic | 0.9988 | pathogenic | -1.079 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9981 | likely_pathogenic | 0.9968 | pathogenic | -1.445 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9968 | likely_pathogenic | 0.9951 | pathogenic | -1.64 | Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.565294918 | disulfide | None | N |
| C/S | 0.8913 | likely_pathogenic | 0.8414 | pathogenic | -2.111 | Highly Destabilizing | 0.792 | D | 0.617 | neutral | D | 0.565041428 | disulfide | None | N |
| C/T | 0.9212 | likely_pathogenic | 0.8795 | pathogenic | -1.731 | Destabilizing | 0.992 | D | 0.793 | deleterious | None | None | disulfide | None | N |
| C/V | 0.8161 | likely_pathogenic | 0.7581 | pathogenic | -1.079 | Destabilizing | 0.997 | D | 0.818 | deleterious | None | None | disulfide | None | N |
| C/W | 0.9916 | likely_pathogenic | 0.988 | pathogenic | -1.583 | Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.565294918 | disulfide | None | N |
| C/Y | 0.983 | likely_pathogenic | 0.9752 | pathogenic | -1.378 | Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.553685123 | 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.