Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6981 | 21166;21167;21168 | chr2:178724434;178724433;178724432 | chr2:179589161;179589160;179589159 |
| N2AB | 6664 | 20215;20216;20217 | chr2:178724434;178724433;178724432 | chr2:179589161;179589160;179589159 |
| N2A | 5737 | 17434;17435;17436 | chr2:178724434;178724433;178724432 | chr2:179589161;179589160;179589159 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | rs746471698  |
-0.303 | 1.0 | D | 0.821 | 0.878 | 0.925011788365 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.22891E-04 | None | 0 | None | 0 | 0 | 0 |
| W/C | rs746471698 |
-0.303 | 1.0 | D | 0.821 | 0.878 | 0.925011788365 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92901E-04 | None | 0 | 0 | 0 | 0 | 0 |
| W/C | rs746471698 |
-0.303 | 1.0 | D | 0.821 | 0.878 | 0.925011788365 | gnomAD-4.0.0 | 2.47937E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 8.91544E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9905 | likely_pathogenic | 0.9876 | pathogenic | -2.206 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| W/C | 0.9954 | likely_pathogenic | 0.9943 | pathogenic | -0.783 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.698189994 | None | None | N |
| W/D | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -2.983 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| W/E | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -2.853 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| W/F | 0.7119 | likely_pathogenic | 0.7185 | pathogenic | -1.412 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| W/G | 0.966 | likely_pathogenic | 0.9582 | pathogenic | -2.451 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.69798819 | None | None | N |
| W/H | 0.9952 | likely_pathogenic | 0.9951 | pathogenic | -2.062 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| W/I | 0.9576 | likely_pathogenic | 0.9547 | pathogenic | -1.295 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| W/K | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -1.912 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| W/L | 0.9335 | likely_pathogenic | 0.9312 | pathogenic | -1.295 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.672450078 | None | None | N |
| W/M | 0.9815 | likely_pathogenic | 0.9802 | pathogenic | -0.78 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| W/N | 0.9981 | likely_pathogenic | 0.9979 | pathogenic | -2.684 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| W/P | 0.999 | likely_pathogenic | 0.9986 | pathogenic | -1.625 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| W/Q | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -2.399 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| W/R | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -2.089 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.698189994 | None | None | N |
| W/S | 0.9909 | likely_pathogenic | 0.9894 | pathogenic | -2.676 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.698189994 | None | None | N |
| W/T | 0.9922 | likely_pathogenic | 0.9913 | pathogenic | -2.46 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| W/V | 0.9699 | likely_pathogenic | 0.9651 | pathogenic | -1.625 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| W/Y | 0.8818 | likely_pathogenic | 0.8829 | pathogenic | -1.259 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | 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.