Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15102 | 45529;45530;45531 | chr2:178621520;178621519;178621518 | chr2:179486247;179486246;179486245 |
| N2AB | 13461 | 40606;40607;40608 | chr2:178621520;178621519;178621518 | chr2:179486247;179486246;179486245 |
| N2A | 12534 | 37825;37826;37827 | chr2:178621520;178621519;178621518 | chr2:179486247;179486246;179486245 |
| N2B | 6037 | 18334;18335;18336 | chr2:178621520;178621519;178621518 | chr2:179486247;179486246;179486245 |
| Novex-1 | 6162 | 18709;18710;18711 | chr2:178621520;178621519;178621518 | chr2:179486247;179486246;179486245 |
| Novex-2 | 6229 | 18910;18911;18912 | chr2:178621520;178621519;178621518 | chr2:179486247;179486246;179486245 |
| 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 | None | None | 1.0 | D | 0.901 | 0.636 | 0.912014209022 | 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 | 0.9214 | likely_pathogenic | 0.9429 | pathogenic | -1.221 | Destabilizing | 0.998 | D | 0.685 | prob.neutral | None | None | disulfide | None | N |
| C/D | 0.9996 | likely_pathogenic | 0.9992 | pathogenic | -1.587 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -1.332 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | disulfide | None | N |
| C/F | 0.9382 | likely_pathogenic | 0.9377 | pathogenic | -0.672 | Destabilizing | 1.0 | D | 0.886 | deleterious | D | 0.775765011 | disulfide | None | N |
| C/G | 0.8794 | likely_pathogenic | 0.8784 | pathogenic | -1.547 | Destabilizing | 1.0 | D | 0.882 | deleterious | D | 0.824486978 | disulfide | None | N |
| C/H | 0.9985 | likely_pathogenic | 0.9974 | pathogenic | -1.771 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | disulfide | None | N |
| C/I | 0.9366 | likely_pathogenic | 0.9334 | pathogenic | -0.326 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -0.835 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | disulfide | None | N |
| C/L | 0.9299 | likely_pathogenic | 0.9099 | pathogenic | -0.326 | Destabilizing | 0.999 | D | 0.753 | deleterious | None | None | disulfide | None | N |
| C/M | 0.9792 | likely_pathogenic | 0.9789 | pathogenic | -0.358 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | disulfide | None | N |
| C/N | 0.998 | likely_pathogenic | 0.9973 | pathogenic | -1.545 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9995 | likely_pathogenic | 0.9988 | pathogenic | -0.606 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.999 | likely_pathogenic | 0.9986 | pathogenic | -0.988 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9973 | likely_pathogenic | 0.9954 | pathogenic | -1.434 | Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.824486978 | disulfide | None | N |
| C/S | 0.964 | likely_pathogenic | 0.9705 | pathogenic | -1.735 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.824486978 | disulfide | None | N |
| C/T | 0.9784 | likely_pathogenic | 0.9809 | pathogenic | -1.321 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | disulfide | None | N |
| C/V | 0.8751 | likely_pathogenic | 0.8893 | pathogenic | -0.606 | Destabilizing | 0.999 | D | 0.795 | deleterious | None | None | disulfide | None | N |
| C/W | 0.9956 | likely_pathogenic | 0.9941 | pathogenic | -1.19 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.824486978 | disulfide | None | N |
| C/Y | 0.9882 | likely_pathogenic | 0.9849 | pathogenic | -0.914 | Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.79299984 | 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.