Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23945 | 72058;72059;72060 | chr2:178574299;178574298;178574297 | chr2:179439026;179439025;179439024 |
| N2AB | 22304 | 67135;67136;67137 | chr2:178574299;178574298;178574297 | chr2:179439026;179439025;179439024 |
| N2A | 21377 | 64354;64355;64356 | chr2:178574299;178574298;178574297 | chr2:179439026;179439025;179439024 |
| N2B | 14880 | 44863;44864;44865 | chr2:178574299;178574298;178574297 | chr2:179439026;179439025;179439024 |
| Novex-1 | 15005 | 45238;45239;45240 | chr2:178574299;178574298;178574297 | chr2:179439026;179439025;179439024 |
| Novex-2 | 15072 | 45439;45440;45441 | chr2:178574299;178574298;178574297 | chr2:179439026;179439025;179439024 |
| 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 | rs1217858818  |
-1.815 | 1.0 | D | 0.816 | 0.879 | 0.681649958028 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| W/C | rs1217858818 |
-1.815 | 1.0 | D | 0.816 | 0.879 | 0.681649958028 | gnomAD-4.0.0 | 1.592E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85928E-06 | 0 | 0 |
| W/R | rs553796385 |
-2.075 | 1.0 | D | 0.88 | 0.871 | 0.92505512226 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.30804E-04 | None | 0 | 0 | 0 |
| W/R | rs553796385 |
-2.075 | 1.0 | D | 0.88 | 0.871 | 0.92505512226 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.14422E-04 | 0 |
| W/R | rs553796385 |
-2.075 | 1.0 | D | 0.88 | 0.871 | 0.92505512226 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| W/R | rs553796385 |
-2.075 | 1.0 | D | 0.88 | 0.871 | 0.92505512226 | gnomAD-4.0.0 | 5.578E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 9.88381E-05 | 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 | 0.997 | likely_pathogenic | 0.997 | pathogenic | -3.936 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| W/C | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -2.24 | Highly Destabilizing | 1.0 | D | 0.816 | deleterious | D | 0.699975923 | None | None | N |
| W/D | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -4.118 | Highly Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| W/E | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -4.016 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| W/F | 0.811 | likely_pathogenic | 0.7598 | pathogenic | -2.577 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| W/G | 0.9819 | likely_pathogenic | 0.9807 | pathogenic | -4.148 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.699975923 | None | None | N |
| W/H | 0.9981 | likely_pathogenic | 0.9975 | pathogenic | -3.03 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| W/I | 0.9934 | likely_pathogenic | 0.9929 | pathogenic | -3.079 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -3.074 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| W/L | 0.9832 | likely_pathogenic | 0.983 | pathogenic | -3.079 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.699774118 | None | None | N |
| W/M | 0.9952 | likely_pathogenic | 0.9954 | pathogenic | -2.432 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| W/N | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -3.707 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| W/P | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -3.398 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| W/Q | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.616 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| W/R | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -2.582 | Highly Destabilizing | 1.0 | D | 0.88 | deleterious | D | 0.699975923 | None | None | N |
| W/S | 0.9966 | likely_pathogenic | 0.9963 | pathogenic | -3.851 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | D | 0.699975923 | None | None | N |
| W/T | 0.9975 | likely_pathogenic | 0.9975 | pathogenic | -3.682 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| W/V | 0.9944 | likely_pathogenic | 0.994 | pathogenic | -3.398 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| W/Y | 0.9607 | likely_pathogenic | 0.9508 | pathogenic | -2.495 | Highly Destabilizing | 1.0 | D | 0.824 | 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.