Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25912 | 77959;77960;77961 | chr2:178568398;178568397;178568396 | chr2:179433125;179433124;179433123 |
| N2AB | 24271 | 73036;73037;73038 | chr2:178568398;178568397;178568396 | chr2:179433125;179433124;179433123 |
| N2A | 23344 | 70255;70256;70257 | chr2:178568398;178568397;178568396 | chr2:179433125;179433124;179433123 |
| N2B | 16847 | 50764;50765;50766 | chr2:178568398;178568397;178568396 | chr2:179433125;179433124;179433123 |
| Novex-1 | 16972 | 51139;51140;51141 | chr2:178568398;178568397;178568396 | chr2:179433125;179433124;179433123 |
| Novex-2 | 17039 | 51340;51341;51342 | chr2:178568398;178568397;178568396 | chr2:179433125;179433124;179433123 |
| 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 | rs759946219  |
-1.873 | 1.0 | D | 0.883 | 0.867 | 0.847646856092 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| W/C | rs759946219 |
-1.873 | 1.0 | D | 0.883 | 0.867 | 0.847646856092 | gnomAD-4.0.0 | 1.59264E-06 | None | None | None | None | N | None | 0 | 2.28948E-05 | None | 0 | 0 | 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 | 0.9988 | likely_pathogenic | 0.9993 | pathogenic | -3.66 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| W/C | 0.9987 | likely_pathogenic | 0.9991 | pathogenic | -2.422 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.673607413 | None | None | N |
| W/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -4.033 | Highly Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | None | N |
| W/E | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.916 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| W/F | 0.8938 | likely_pathogenic | 0.9055 | pathogenic | -2.381 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| W/G | 0.9934 | likely_pathogenic | 0.996 | pathogenic | -3.908 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.673607412 | None | None | N |
| W/H | 0.999 | likely_pathogenic | 0.9992 | pathogenic | -2.938 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| W/I | 0.9973 | likely_pathogenic | 0.9981 | pathogenic | -2.687 | Highly Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.119 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| W/L | 0.9937 | likely_pathogenic | 0.9951 | pathogenic | -2.687 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.62712448 | None | None | N |
| W/M | 0.9984 | likely_pathogenic | 0.9989 | pathogenic | -2.224 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| W/N | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.849 | Highly Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| W/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.045 | Highly Destabilizing | 1.0 | D | 0.929 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.678 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| W/R | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -2.76 | Highly Destabilizing | 1.0 | D | 0.917 | deleterious | D | 0.673607412 | None | None | N |
| W/S | 0.9979 | likely_pathogenic | 0.9989 | pathogenic | -3.991 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.673607412 | None | None | N |
| W/T | 0.9992 | likely_pathogenic | 0.9995 | pathogenic | -3.797 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| W/V | 0.9973 | likely_pathogenic | 0.9981 | pathogenic | -3.045 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| W/Y | 0.9815 | likely_pathogenic | 0.9869 | pathogenic | -2.296 | Highly Destabilizing | 1.0 | D | 0.823 | 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.