Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31541 | 94846;94847;94848 | chr2:178546807;178546806;178546805 | chr2:179411534;179411533;179411532 |
| N2AB | 29900 | 89923;89924;89925 | chr2:178546807;178546806;178546805 | chr2:179411534;179411533;179411532 |
| N2A | 28973 | 87142;87143;87144 | chr2:178546807;178546806;178546805 | chr2:179411534;179411533;179411532 |
| N2B | 22476 | 67651;67652;67653 | chr2:178546807;178546806;178546805 | chr2:179411534;179411533;179411532 |
| Novex-1 | 22601 | 68026;68027;68028 | chr2:178546807;178546806;178546805 | chr2:179411534;179411533;179411532 |
| Novex-2 | 22668 | 68227;68228;68229 | chr2:178546807;178546806;178546805 | chr2:179411534;179411533;179411532 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | None | None | 1.0 | D | 0.829 | 0.818 | 0.875016496084 | gnomAD-4.0.0 | 1.59235E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86085E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9991 | likely_pathogenic | 0.9986 | pathogenic | -3.715 | Highly Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| Y/C | 0.968 | likely_pathogenic | 0.9437 | pathogenic | -2.148 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.653726999 | None | None | N |
| Y/D | 0.999 | likely_pathogenic | 0.9982 | pathogenic | -4.013 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.670149969 | None | None | N |
| Y/E | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -3.803 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| Y/F | 0.3886 | ambiguous | 0.313 | benign | -1.534 | Destabilizing | 0.999 | D | 0.661 | neutral | D | 0.57661977 | None | None | N |
| Y/G | 0.9962 | likely_pathogenic | 0.9949 | pathogenic | -4.113 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| Y/H | 0.9919 | likely_pathogenic | 0.9842 | pathogenic | -2.732 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.653726999 | None | None | N |
| Y/I | 0.9949 | likely_pathogenic | 0.9918 | pathogenic | -2.359 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| Y/K | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -2.681 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| Y/L | 0.9845 | likely_pathogenic | 0.9807 | pathogenic | -2.359 | Highly Destabilizing | 0.999 | D | 0.706 | prob.neutral | None | None | None | None | N |
| Y/M | 0.995 | likely_pathogenic | 0.9921 | pathogenic | -2.057 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| Y/N | 0.9887 | likely_pathogenic | 0.9815 | pathogenic | -3.462 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.670149969 | None | None | N |
| Y/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.832 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| Y/Q | 0.9995 | likely_pathogenic | 0.9991 | pathogenic | -3.214 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| Y/R | 0.9983 | likely_pathogenic | 0.9973 | pathogenic | -2.374 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| Y/S | 0.9953 | likely_pathogenic | 0.9931 | pathogenic | -3.768 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.670149969 | None | None | N |
| Y/T | 0.9988 | likely_pathogenic | 0.9982 | pathogenic | -3.444 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| Y/V | 0.9891 | likely_pathogenic | 0.9841 | pathogenic | -2.832 | Highly Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| Y/W | 0.9132 | likely_pathogenic | 0.8851 | pathogenic | -0.771 | Destabilizing | 1.0 | D | 0.826 | 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.