Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33623 | 101092;101093;101094 | chr2:178535748;178535747;178535746 | chr2:179400475;179400474;179400473 |
| N2AB | 31982 | 96169;96170;96171 | chr2:178535748;178535747;178535746 | chr2:179400475;179400474;179400473 |
| N2A | 31055 | 93388;93389;93390 | chr2:178535748;178535747;178535746 | chr2:179400475;179400474;179400473 |
| N2B | 24558 | 73897;73898;73899 | chr2:178535748;178535747;178535746 | chr2:179400475;179400474;179400473 |
| Novex-1 | 24683 | 74272;74273;74274 | chr2:178535748;178535747;178535746 | chr2:179400475;179400474;179400473 |
| Novex-2 | 24750 | 74473;74474;74475 | chr2:178535748;178535747;178535746 | chr2:179400475;179400474;179400473 |
| 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/L | rs1199682198  |
-0.368 | 1.0 | D | 0.757 | 0.735 | 0.856589233873 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| P/L | rs1199682198 |
-0.368 | 1.0 | D | 0.757 | 0.735 | 0.856589233873 | gnomAD-4.0.0 | 1.59158E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85842E-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 | 0.9806 | likely_pathogenic | 0.9739 | pathogenic | -1.063 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | D | 0.538249527 | None | None | N |
| P/C | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -0.597 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| P/D | 0.9955 | likely_pathogenic | 0.9949 | pathogenic | -0.759 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| P/E | 0.9958 | likely_pathogenic | 0.9933 | pathogenic | -0.81 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| P/F | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -0.982 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| P/G | 0.9903 | likely_pathogenic | 0.9903 | pathogenic | -1.299 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| P/H | 0.9966 | likely_pathogenic | 0.9957 | pathogenic | -0.827 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| P/I | 0.9944 | likely_pathogenic | 0.9915 | pathogenic | -0.548 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| P/K | 0.997 | likely_pathogenic | 0.9955 | pathogenic | -0.834 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| P/L | 0.9895 | likely_pathogenic | 0.9849 | pathogenic | -0.548 | Destabilizing | 1.0 | D | 0.757 | deleterious | D | 0.572078276 | None | None | N |
| P/M | 0.9965 | likely_pathogenic | 0.9954 | pathogenic | -0.439 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| P/N | 0.9956 | likely_pathogenic | 0.9946 | pathogenic | -0.527 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| P/Q | 0.9959 | likely_pathogenic | 0.9941 | pathogenic | -0.735 | Destabilizing | 1.0 | D | 0.772 | deleterious | D | 0.531666161 | None | None | N |
| P/R | 0.9938 | likely_pathogenic | 0.9898 | pathogenic | -0.295 | Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.603945554 | None | None | N |
| P/S | 0.9951 | likely_pathogenic | 0.9942 | pathogenic | -0.951 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.549263437 | None | None | N |
| P/T | 0.9838 | likely_pathogenic | 0.9796 | pathogenic | -0.899 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | D | 0.587694028 | None | None | N |
| P/V | 0.9875 | likely_pathogenic | 0.9812 | pathogenic | -0.684 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| P/W | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -1.115 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| P/Y | 0.9989 | likely_pathogenic | 0.9983 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.825 | 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.