Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23173 | 69742;69743;69744 | chr2:178576727;178576726;178576725 | chr2:179441454;179441453;179441452 |
| N2AB | 21532 | 64819;64820;64821 | chr2:178576727;178576726;178576725 | chr2:179441454;179441453;179441452 |
| N2A | 20605 | 62038;62039;62040 | chr2:178576727;178576726;178576725 | chr2:179441454;179441453;179441452 |
| N2B | 14108 | 42547;42548;42549 | chr2:178576727;178576726;178576725 | chr2:179441454;179441453;179441452 |
| Novex-1 | 14233 | 42922;42923;42924 | chr2:178576727;178576726;178576725 | chr2:179441454;179441453;179441452 |
| Novex-2 | 14300 | 43123;43124;43125 | chr2:178576727;178576726;178576725 | chr2:179441454;179441453;179441452 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs773592810  |
-1.025 | 0.997 | N | 0.897 | 0.5 | 0.587237122171 | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.91E-05 | 0 |
| G/R | rs773592810 |
-1.025 | 0.997 | N | 0.897 | 0.5 | 0.587237122171 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| G/R | rs773592810 |
-1.025 | 0.997 | N | 0.897 | 0.5 | 0.587237122171 | gnomAD-4.0.0 | 2.66522E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.56047E-05 | 0 | 1.60154E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2998 | likely_benign | 0.3028 | benign | -0.869 | Destabilizing | 0.991 | D | 0.577 | neutral | N | 0.493341516 | None | None | N |
| G/C | 0.3866 | ambiguous | 0.4414 | ambiguous | -1.064 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/D | 0.8224 | likely_pathogenic | 0.8499 | pathogenic | -2.09 | Highly Destabilizing | 0.996 | D | 0.801 | deleterious | None | None | None | None | N |
| G/E | 0.8492 | likely_pathogenic | 0.8831 | pathogenic | -2.038 | Highly Destabilizing | 0.997 | D | 0.89 | deleterious | N | 0.47505945 | None | None | N |
| G/F | 0.8854 | likely_pathogenic | 0.9054 | pathogenic | -0.925 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| G/H | 0.7274 | likely_pathogenic | 0.7673 | pathogenic | -1.712 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| G/I | 0.8833 | likely_pathogenic | 0.9108 | pathogenic | -0.152 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| G/K | 0.8837 | likely_pathogenic | 0.9116 | pathogenic | -1.36 | Destabilizing | 0.998 | D | 0.891 | deleterious | None | None | None | None | N |
| G/L | 0.8729 | likely_pathogenic | 0.8948 | pathogenic | -0.152 | Destabilizing | 0.999 | D | 0.897 | deleterious | None | None | None | None | N |
| G/M | 0.8811 | likely_pathogenic | 0.9065 | pathogenic | -0.216 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| G/N | 0.6247 | likely_pathogenic | 0.6688 | pathogenic | -1.307 | Destabilizing | 0.521 | D | 0.555 | neutral | None | None | None | None | N |
| G/P | 0.9991 | likely_pathogenic | 0.9994 | pathogenic | -0.35 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| G/Q | 0.7639 | likely_pathogenic | 0.8003 | pathogenic | -1.352 | Destabilizing | 0.999 | D | 0.896 | deleterious | None | None | None | None | N |
| G/R | 0.7176 | likely_pathogenic | 0.7718 | pathogenic | -1.194 | Destabilizing | 0.997 | D | 0.897 | deleterious | N | 0.499733844 | None | None | N |
| G/S | 0.199 | likely_benign | 0.2107 | benign | -1.564 | Destabilizing | 0.996 | D | 0.661 | neutral | None | None | None | None | N |
| G/T | 0.5562 | ambiguous | 0.6097 | pathogenic | -1.431 | Destabilizing | 0.998 | D | 0.888 | deleterious | None | None | None | None | N |
| G/V | 0.7792 | likely_pathogenic | 0.817 | pathogenic | -0.35 | Destabilizing | 0.999 | D | 0.899 | deleterious | D | 0.535488281 | None | None | N |
| G/W | 0.802 | likely_pathogenic | 0.8391 | pathogenic | -1.54 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| G/Y | 0.766 | likely_pathogenic | 0.8056 | pathogenic | -1.042 | Destabilizing | 1.0 | D | 0.887 | 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.