Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20669 | 62230;62231;62232 | chr2:178589720;178589719;178589718 | chr2:179454447;179454446;179454445 |
| N2AB | 19028 | 57307;57308;57309 | chr2:178589720;178589719;178589718 | chr2:179454447;179454446;179454445 |
| N2A | 18101 | 54526;54527;54528 | chr2:178589720;178589719;178589718 | chr2:179454447;179454446;179454445 |
| N2B | 11604 | 35035;35036;35037 | chr2:178589720;178589719;178589718 | chr2:179454447;179454446;179454445 |
| Novex-1 | 11729 | 35410;35411;35412 | chr2:178589720;178589719;178589718 | chr2:179454447;179454446;179454445 |
| Novex-2 | 11796 | 35611;35612;35613 | chr2:178589720;178589719;178589718 | chr2:179454447;179454446;179454445 |
| 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 | rs1025235862  |
None | 1.0 | D | 0.87 | 0.56 | 0.59007929581 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/R | rs1025235862 |
None | 1.0 | D | 0.87 | 0.56 | 0.59007929581 | gnomAD-4.0.0 | 3.09905E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39095E-06 | 1.09806E-05 | 0 |
| P/S | rs1553641246 |
None | 1.0 | N | 0.788 | 0.52 | 0.50231727954 | gnomAD-4.0.0 | 3.18347E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71873E-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 | 0.9539 | likely_pathogenic | 0.9242 | pathogenic | -1.236 | Destabilizing | 0.999 | D | 0.851 | deleterious | N | 0.516765369 | None | None | N |
| P/C | 0.9943 | likely_pathogenic | 0.9914 | pathogenic | -1.898 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/D | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -3.159 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| P/E | 0.9988 | likely_pathogenic | 0.998 | pathogenic | -3.116 | Highly Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| P/F | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -0.965 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| P/G | 0.9951 | likely_pathogenic | 0.9925 | pathogenic | -1.516 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| P/H | 0.9989 | likely_pathogenic | 0.9982 | pathogenic | -0.939 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/I | 0.9968 | likely_pathogenic | 0.994 | pathogenic | -0.538 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/K | 0.999 | likely_pathogenic | 0.9984 | pathogenic | -1.299 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| P/L | 0.9923 | likely_pathogenic | 0.9869 | pathogenic | -0.538 | Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.527614696 | None | None | N |
| P/M | 0.9983 | likely_pathogenic | 0.9971 | pathogenic | -0.84 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| P/N | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -1.637 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/Q | 0.9983 | likely_pathogenic | 0.9974 | pathogenic | -1.841 | Destabilizing | 1.0 | D | 0.84 | deleterious | D | 0.529135633 | None | None | N |
| P/R | 0.9972 | likely_pathogenic | 0.9958 | pathogenic | -0.837 | Destabilizing | 1.0 | D | 0.87 | deleterious | D | 0.528628654 | None | None | N |
| P/S | 0.9961 | likely_pathogenic | 0.9936 | pathogenic | -1.898 | Destabilizing | 1.0 | D | 0.788 | deleterious | N | 0.51651188 | None | None | N |
| P/T | 0.9928 | likely_pathogenic | 0.9879 | pathogenic | -1.759 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.528628654 | None | None | N |
| P/V | 0.988 | likely_pathogenic | 0.9808 | pathogenic | -0.743 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -1.268 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| P/Y | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -0.898 | Destabilizing | 1.0 | D | 0.866 | 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.