Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28175 | 84748;84749;84750 | chr2:178561609;178561608;178561607 | chr2:179426336;179426335;179426334 |
| N2AB | 26534 | 79825;79826;79827 | chr2:178561609;178561608;178561607 | chr2:179426336;179426335;179426334 |
| N2A | 25607 | 77044;77045;77046 | chr2:178561609;178561608;178561607 | chr2:179426336;179426335;179426334 |
| N2B | 19110 | 57553;57554;57555 | chr2:178561609;178561608;178561607 | chr2:179426336;179426335;179426334 |
| Novex-1 | 19235 | 57928;57929;57930 | chr2:178561609;178561608;178561607 | chr2:179426336;179426335;179426334 |
| Novex-2 | 19302 | 58129;58130;58131 | chr2:178561609;178561608;178561607 | chr2:179426336;179426335;179426334 |
| 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 | rs886042366  |
-1.887 | 1.0 | D | 0.842 | 0.774 | 0.783269768591 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| W/C | rs886042366 |
-1.887 | 1.0 | D | 0.842 | 0.774 | 0.783269768591 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| W/C | rs886042366 |
-1.887 | 1.0 | D | 0.842 | 0.774 | 0.783269768591 | gnomAD-4.0.0 | 2.56478E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78955E-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 | 0.9975 | likely_pathogenic | 0.9977 | pathogenic | -3.747 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| W/C | 0.9975 | likely_pathogenic | 0.9977 | pathogenic | -2.051 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | D | 0.668114029 | None | None | N |
| W/D | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.933 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| W/E | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.824 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| W/F | 0.7859 | likely_pathogenic | 0.8004 | pathogenic | -2.41 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| W/G | 0.9835 | likely_pathogenic | 0.9847 | pathogenic | -3.972 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | D | 0.668114029 | None | None | N |
| W/H | 0.9974 | likely_pathogenic | 0.9974 | pathogenic | -2.849 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| W/I | 0.996 | likely_pathogenic | 0.9962 | pathogenic | -2.85 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.916 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| W/L | 0.9864 | likely_pathogenic | 0.987 | pathogenic | -2.85 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | D | 0.667105007 | None | None | N |
| W/M | 0.9968 | likely_pathogenic | 0.997 | pathogenic | -2.202 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| W/N | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -3.578 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| W/P | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -3.182 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| W/Q | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.462 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| W/R | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -2.477 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.668114029 | None | None | N |
| W/S | 0.9941 | likely_pathogenic | 0.9944 | pathogenic | -3.722 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | D | 0.668114029 | None | None | N |
| W/T | 0.9983 | likely_pathogenic | 0.9983 | pathogenic | -3.544 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| W/V | 0.9954 | likely_pathogenic | 0.9954 | pathogenic | -3.182 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| W/Y | 0.9537 | likely_pathogenic | 0.9523 | pathogenic | -2.275 | Highly Destabilizing | 1.0 | D | 0.816 | 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.