Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15052 | 45379;45380;45381 | chr2:178621670;178621669;178621668 | chr2:179486397;179486396;179486395 |
| N2AB | 13411 | 40456;40457;40458 | chr2:178621670;178621669;178621668 | chr2:179486397;179486396;179486395 |
| N2A | 12484 | 37675;37676;37677 | chr2:178621670;178621669;178621668 | chr2:179486397;179486396;179486395 |
| N2B | 5987 | 18184;18185;18186 | chr2:178621670;178621669;178621668 | chr2:179486397;179486396;179486395 |
| Novex-1 | 6112 | 18559;18560;18561 | chr2:178621670;178621669;178621668 | chr2:179486397;179486396;179486395 |
| Novex-2 | 6179 | 18760;18761;18762 | chr2:178621670;178621669;178621668 | chr2:179486397;179486396;179486395 |
| 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/Y | rs2058300029  |
None | 1.0 | D | 0.924 | 0.779 | 0.924196854224 | gnomAD-4.0.0 | 2.05432E-06 | None | None | disulfide | None | N | None | 2.99473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79989E-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 | 0.7522 | likely_pathogenic | 0.818 | pathogenic | -1.636 | Destabilizing | 0.998 | D | 0.639 | neutral | None | None | disulfide | None | N |
| C/D | 0.9981 | likely_pathogenic | 0.9987 | pathogenic | -1.811 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -1.564 | Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | disulfide | None | N |
| C/F | 0.9211 | likely_pathogenic | 0.9327 | pathogenic | -0.951 | Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.825406837 | disulfide | None | N |
| C/G | 0.636 | likely_pathogenic | 0.7062 | pathogenic | -1.988 | Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.77516844 | disulfide | None | N |
| C/H | 0.9968 | likely_pathogenic | 0.9973 | pathogenic | -2.143 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | disulfide | None | N |
| C/I | 0.92 | likely_pathogenic | 0.9436 | pathogenic | -0.671 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.373 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | disulfide | None | N |
| C/L | 0.9003 | likely_pathogenic | 0.917 | pathogenic | -0.671 | Destabilizing | 0.999 | D | 0.741 | deleterious | None | None | disulfide | None | N |
| C/M | 0.9577 | likely_pathogenic | 0.9644 | pathogenic | -0.057 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | disulfide | None | N |
| C/N | 0.9917 | likely_pathogenic | 0.9943 | pathogenic | -2.036 | Highly Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9986 | likely_pathogenic | 0.9988 | pathogenic | -0.973 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9976 | likely_pathogenic | 0.998 | pathogenic | -1.53 | Destabilizing | 1.0 | D | 0.933 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9948 | likely_pathogenic | 0.9959 | pathogenic | -1.752 | Destabilizing | 1.0 | D | 0.927 | deleterious | D | 0.825486545 | disulfide | None | N |
| C/S | 0.826 | likely_pathogenic | 0.8732 | pathogenic | -2.314 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.77516844 | disulfide | None | N |
| C/T | 0.885 | likely_pathogenic | 0.9198 | pathogenic | -1.895 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | disulfide | None | N |
| C/V | 0.8025 | likely_pathogenic | 0.8576 | pathogenic | -0.973 | Destabilizing | 0.999 | D | 0.793 | deleterious | None | None | disulfide | None | N |
| C/W | 0.9924 | likely_pathogenic | 0.9925 | pathogenic | -1.415 | Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.825376829 | disulfide | None | N |
| C/Y | 0.9834 | likely_pathogenic | 0.986 | pathogenic | -1.205 | Destabilizing | 1.0 | D | 0.924 | deleterious | D | 0.825486545 | 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.