Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27516 | 82771;82772;82773 | chr2:178563586;178563585;178563584 | chr2:179428313;179428312;179428311 |
| N2AB | 25875 | 77848;77849;77850 | chr2:178563586;178563585;178563584 | chr2:179428313;179428312;179428311 |
| N2A | 24948 | 75067;75068;75069 | chr2:178563586;178563585;178563584 | chr2:179428313;179428312;179428311 |
| N2B | 18451 | 55576;55577;55578 | chr2:178563586;178563585;178563584 | chr2:179428313;179428312;179428311 |
| Novex-1 | 18576 | 55951;55952;55953 | chr2:178563586;178563585;178563584 | chr2:179428313;179428312;179428311 |
| Novex-2 | 18643 | 56152;56153;56154 | chr2:178563586;178563585;178563584 | chr2:179428313;179428312;179428311 |
| 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/R | rs749677127  |
-0.848 | 1.0 | D | 0.77 | 0.529 | 0.818564573856 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| W/R | rs749677127 |
-0.848 | 1.0 | D | 0.77 | 0.529 | 0.818564573856 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 | 0.9957 | likely_pathogenic | 0.9962 | pathogenic | -3.063 | Highly Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| W/C | 0.9983 | likely_pathogenic | 0.9981 | pathogenic | -1.326 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | N | 0.51965807 | None | None | N |
| W/D | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -1.571 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| W/E | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -1.505 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| W/F | 0.752 | likely_pathogenic | 0.7175 | pathogenic | -1.968 | Destabilizing | 1.0 | D | 0.644 | neutral | None | None | None | None | N |
| W/G | 0.9837 | likely_pathogenic | 0.9853 | pathogenic | -3.252 | Highly Destabilizing | 1.0 | D | 0.667 | neutral | D | 0.533621268 | None | None | N |
| W/H | 0.9948 | likely_pathogenic | 0.9945 | pathogenic | -1.509 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
| W/I | 0.9936 | likely_pathogenic | 0.994 | pathogenic | -2.379 | Highly Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| W/K | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -1.54 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| W/L | 0.9795 | likely_pathogenic | 0.981 | pathogenic | -2.379 | Highly Destabilizing | 1.0 | D | 0.667 | neutral | D | 0.526277434 | None | None | N |
| W/M | 0.9945 | likely_pathogenic | 0.9946 | pathogenic | -1.804 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| W/N | 0.9979 | likely_pathogenic | 0.9981 | pathogenic | -1.817 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| W/P | 0.9969 | likely_pathogenic | 0.9973 | pathogenic | -2.622 | Highly Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| W/Q | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -1.866 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| W/R | 0.9987 | likely_pathogenic | 0.9989 | pathogenic | -0.877 | Destabilizing | 1.0 | D | 0.77 | deleterious | D | 0.557005442 | None | None | N |
| W/S | 0.9912 | likely_pathogenic | 0.9927 | pathogenic | -2.309 | Highly Destabilizing | 1.0 | D | 0.77 | deleterious | D | 0.52847948 | None | None | N |
| W/T | 0.9965 | likely_pathogenic | 0.997 | pathogenic | -2.2 | Highly Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| W/V | 0.993 | likely_pathogenic | 0.9935 | pathogenic | -2.622 | Highly Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| W/Y | 0.9111 | likely_pathogenic | 0.9003 | pathogenic | -1.741 | Destabilizing | 1.0 | D | 0.603 | neutral | 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.