Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33122 | 99589;99590;99591 | chr2:178537843;178537842;178537841 | chr2:179402570;179402569;179402568 |
| N2AB | 31481 | 94666;94667;94668 | chr2:178537843;178537842;178537841 | chr2:179402570;179402569;179402568 |
| N2A | 30554 | 91885;91886;91887 | chr2:178537843;178537842;178537841 | chr2:179402570;179402569;179402568 |
| N2B | 24057 | 72394;72395;72396 | chr2:178537843;178537842;178537841 | chr2:179402570;179402569;179402568 |
| Novex-1 | 24182 | 72769;72770;72771 | chr2:178537843;178537842;178537841 | chr2:179402570;179402569;179402568 |
| Novex-2 | 24249 | 72970;72971;72972 | chr2:178537843;178537842;178537841 | chr2:179402570;179402569;179402568 |
| 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/F | rs1692294550  |
None | 1.0 | D | 0.922 | 0.674 | 0.870638749041 | gnomAD-4.0.0 | 4.77517E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 8.32178E-05 | None | 0 | 0 | 0 | 0 | 0 |
| C/R | None | None | 1.0 | D | 0.94 | 0.708 | 0.890979346231 | gnomAD-4.0.0 | 1.20032E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 2.75482E-04 | None | 0 | 0 | 0 | 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 | 0.8117 | likely_pathogenic | 0.8589 | pathogenic | -1.763 | Destabilizing | 0.999 | D | 0.731 | prob.delet. | None | None | disulfide | None | N |
| C/D | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -2.052 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.881 | Destabilizing | 1.0 | D | 0.936 | deleterious | None | None | disulfide | None | N |
| C/F | 0.8388 | likely_pathogenic | 0.8187 | pathogenic | -1.21 | Destabilizing | 1.0 | D | 0.922 | deleterious | D | 0.53409961 | disulfide | None | N |
| C/G | 0.7633 | likely_pathogenic | 0.76 | pathogenic | -2.062 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | D | 0.53409961 | disulfide | None | N |
| C/H | 0.9963 | likely_pathogenic | 0.9959 | pathogenic | -2.347 | Highly Destabilizing | 1.0 | D | 0.929 | deleterious | None | None | disulfide | None | N |
| C/I | 0.8579 | likely_pathogenic | 0.8773 | pathogenic | -0.971 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.729 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | disulfide | None | N |
| C/L | 0.8531 | likely_pathogenic | 0.8607 | pathogenic | -0.971 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | disulfide | None | N |
| C/M | 0.9412 | likely_pathogenic | 0.9469 | pathogenic | 0.096 | Stabilizing | 1.0 | D | 0.882 | deleterious | None | None | disulfide | None | N |
| C/N | 0.9942 | likely_pathogenic | 0.9941 | pathogenic | -2.11 | Highly Destabilizing | 1.0 | D | 0.934 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -1.214 | Destabilizing | 1.0 | D | 0.935 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9978 | likely_pathogenic | 0.9978 | pathogenic | -1.82 | Destabilizing | 1.0 | D | 0.946 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9965 | likely_pathogenic | 0.9957 | pathogenic | -1.85 | Destabilizing | 1.0 | D | 0.94 | deleterious | D | 0.540936465 | disulfide | None | N |
| C/S | 0.8559 | likely_pathogenic | 0.8646 | pathogenic | -2.379 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | D | 0.552203865 | disulfide | None | N |
| C/T | 0.8769 | likely_pathogenic | 0.8971 | pathogenic | -2.064 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | disulfide | None | N |
| C/V | 0.7072 | likely_pathogenic | 0.7386 | pathogenic | -1.214 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | disulfide | None | N |
| C/W | 0.9924 | likely_pathogenic | 0.9909 | pathogenic | -1.627 | Destabilizing | 1.0 | D | 0.907 | deleterious | D | 0.552457355 | disulfide | None | N |
| C/Y | 0.9798 | likely_pathogenic | 0.9757 | pathogenic | -1.451 | Destabilizing | 1.0 | D | 0.935 | deleterious | D | 0.552203865 | 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.