Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24833 | 74722;74723;74724 | chr2:178571635;178571634;178571633 | chr2:179436362;179436361;179436360 |
| N2AB | 23192 | 69799;69800;69801 | chr2:178571635;178571634;178571633 | chr2:179436362;179436361;179436360 |
| N2A | 22265 | 67018;67019;67020 | chr2:178571635;178571634;178571633 | chr2:179436362;179436361;179436360 |
| N2B | 15768 | 47527;47528;47529 | chr2:178571635;178571634;178571633 | chr2:179436362;179436361;179436360 |
| Novex-1 | 15893 | 47902;47903;47904 | chr2:178571635;178571634;178571633 | chr2:179436362;179436361;179436360 |
| Novex-2 | 15960 | 48103;48104;48105 | chr2:178571635;178571634;178571633 | chr2:179436362;179436361;179436360 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/R | None | None | 1.0 | D | 0.905 | 0.66 | 0.734463599337 | gnomAD-4.0.0 | 1.3688E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99607E-07 | 1.1595E-05 | 0 |
| P/S | rs1251877606  |
None | 1.0 | N | 0.871 | 0.556 | 0.455996456696 | gnomAD-4.0.0 | 6.36918E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56359E-05 | None | 0 | 0 | 5.71925E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.893 | likely_pathogenic | 0.8763 | pathogenic | -1.966 | Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.524882899 | None | None | N |
| P/C | 0.9872 | likely_pathogenic | 0.9884 | pathogenic | -1.384 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/D | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -2.275 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/E | 0.9972 | likely_pathogenic | 0.9968 | pathogenic | -2.191 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/F | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.391 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| P/G | 0.993 | likely_pathogenic | 0.9927 | pathogenic | -2.387 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| P/H | 0.9966 | likely_pathogenic | 0.9965 | pathogenic | -2.077 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.560130357 | None | None | N |
| P/I | 0.9934 | likely_pathogenic | 0.9935 | pathogenic | -0.852 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| P/K | 0.9985 | likely_pathogenic | 0.9984 | pathogenic | -1.756 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/L | 0.9667 | likely_pathogenic | 0.9696 | pathogenic | -0.852 | Destabilizing | 1.0 | D | 0.906 | deleterious | D | 0.558355931 | None | None | N |
| P/M | 0.9955 | likely_pathogenic | 0.9959 | pathogenic | -0.636 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/N | 0.9988 | likely_pathogenic | 0.9987 | pathogenic | -1.7 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| P/Q | 0.9944 | likely_pathogenic | 0.994 | pathogenic | -1.759 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/R | 0.9941 | likely_pathogenic | 0.9943 | pathogenic | -1.312 | Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.548520562 | None | None | N |
| P/S | 0.9771 | likely_pathogenic | 0.9719 | pathogenic | -2.247 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | N | 0.500929294 | None | None | N |
| P/T | 0.9803 | likely_pathogenic | 0.9753 | pathogenic | -2.046 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.536657278 | None | None | N |
| P/V | 0.9755 | likely_pathogenic | 0.9748 | pathogenic | -1.192 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.764 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/Y | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.452 | Destabilizing | 1.0 | D | 0.905 | 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.