Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25733 | 77422;77423;77424 | chr2:178568935;178568934;178568933 | chr2:179433662;179433661;179433660 |
| N2AB | 24092 | 72499;72500;72501 | chr2:178568935;178568934;178568933 | chr2:179433662;179433661;179433660 |
| N2A | 23165 | 69718;69719;69720 | chr2:178568935;178568934;178568933 | chr2:179433662;179433661;179433660 |
| N2B | 16668 | 50227;50228;50229 | chr2:178568935;178568934;178568933 | chr2:179433662;179433661;179433660 |
| Novex-1 | 16793 | 50602;50603;50604 | chr2:178568935;178568934;178568933 | chr2:179433662;179433661;179433660 |
| Novex-2 | 16860 | 50803;50804;50805 | chr2:178568935;178568934;178568933 | chr2:179433662;179433661;179433660 |
| 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/H | None | None | 1.0 | D | 0.799 | 0.887 | 0.743067053472 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9988 | likely_pathogenic | 0.9985 | pathogenic | -3.464 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| Y/C | 0.9798 | likely_pathogenic | 0.9768 | pathogenic | -1.677 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.645154755 | None | None | N |
| Y/D | 0.9985 | likely_pathogenic | 0.9978 | pathogenic | -3.83 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | D | 0.661608085 | None | None | N |
| Y/E | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -3.614 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| Y/F | 0.5415 | ambiguous | 0.5077 | ambiguous | -1.532 | Destabilizing | 0.999 | D | 0.643 | neutral | D | 0.543982764 | None | None | N |
| Y/G | 0.9938 | likely_pathogenic | 0.9926 | pathogenic | -3.855 | Highly Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | N |
| Y/H | 0.9942 | likely_pathogenic | 0.9922 | pathogenic | -2.701 | Highly Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.63546456 | None | None | N |
| Y/I | 0.9906 | likely_pathogenic | 0.9905 | pathogenic | -2.131 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| Y/K | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -2.5 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| Y/L | 0.9759 | likely_pathogenic | 0.9745 | pathogenic | -2.131 | Highly Destabilizing | 0.998 | D | 0.767 | deleterious | None | None | None | None | N |
| Y/M | 0.9931 | likely_pathogenic | 0.9926 | pathogenic | -1.736 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| Y/N | 0.9892 | likely_pathogenic | 0.9856 | pathogenic | -3.312 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.66140628 | None | None | N |
| Y/P | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -2.596 | Highly Destabilizing | 1.0 | D | 0.928 | deleterious | None | None | None | None | N |
| Y/Q | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -3.031 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| Y/R | 0.9988 | likely_pathogenic | 0.9984 | pathogenic | -2.338 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| Y/S | 0.9963 | likely_pathogenic | 0.9952 | pathogenic | -3.548 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.645154755 | None | None | N |
| Y/T | 0.9986 | likely_pathogenic | 0.9982 | pathogenic | -3.216 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| Y/V | 0.9806 | likely_pathogenic | 0.9801 | pathogenic | -2.596 | Highly Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| Y/W | 0.949 | likely_pathogenic | 0.9444 | pathogenic | -0.79 | Destabilizing | 1.0 | D | 0.796 | 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.