Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28387 | 85384;85385;85386 | chr2:178560973;178560972;178560971 | chr2:179425700;179425699;179425698 |
| N2AB | 26746 | 80461;80462;80463 | chr2:178560973;178560972;178560971 | chr2:179425700;179425699;179425698 |
| N2A | 25819 | 77680;77681;77682 | chr2:178560973;178560972;178560971 | chr2:179425700;179425699;179425698 |
| N2B | 19322 | 58189;58190;58191 | chr2:178560973;178560972;178560971 | chr2:179425700;179425699;179425698 |
| Novex-1 | 19447 | 58564;58565;58566 | chr2:178560973;178560972;178560971 | chr2:179425700;179425699;179425698 |
| Novex-2 | 19514 | 58765;58766;58767 | chr2:178560973;178560972;178560971 | chr2:179425700;179425699;179425698 |
| 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 | rs1415760093  |
0.135 | 1.0 | D | 0.86 | 0.595 | 0.803546519037 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| P/L | rs1415760093 |
0.135 | 1.0 | D | 0.86 | 0.595 | 0.803546519037 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/L | rs1415760093 |
0.135 | 1.0 | D | 0.86 | 0.595 | 0.803546519037 | gnomAD-4.0.0 | 6.40612E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.57148E-06 | 0 | 2.84398E-05 |
| P/S | rs561992231 |
-1.57 | 1.0 | D | 0.856 | 0.63 | 0.6478668012 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/S | rs561992231 |
-1.57 | 1.0 | D | 0.856 | 0.63 | 0.6478668012 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 7.25E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs561992231 |
-1.57 | 1.0 | D | 0.856 | 0.63 | 0.6478668012 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| P/S | rs561992231 |
-1.57 | 1.0 | D | 0.856 | 0.63 | 0.6478668012 | gnomAD-4.0.0 | 7.10468E-06 | None | None | None | None | I | None | 1.22151E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.9086 | likely_pathogenic | 0.8971 | pathogenic | -1.569 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.553818887 | None | None | I |
| P/C | 0.9913 | likely_pathogenic | 0.9917 | pathogenic | -1.092 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| P/D | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -1.335 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| P/E | 0.9973 | likely_pathogenic | 0.9974 | pathogenic | -1.299 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | I |
| P/F | 0.9984 | likely_pathogenic | 0.9983 | pathogenic | -1.168 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| P/G | 0.9923 | likely_pathogenic | 0.9926 | pathogenic | -1.926 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| P/H | 0.996 | likely_pathogenic | 0.9959 | pathogenic | -1.552 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| P/I | 0.9846 | likely_pathogenic | 0.9822 | pathogenic | -0.672 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
| P/K | 0.9983 | likely_pathogenic | 0.9985 | pathogenic | -1.251 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | I |
| P/L | 0.9373 | likely_pathogenic | 0.9221 | pathogenic | -0.672 | Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.545497093 | None | None | I |
| P/M | 0.9923 | likely_pathogenic | 0.9911 | pathogenic | -0.562 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | I |
| P/N | 0.9986 | likely_pathogenic | 0.9986 | pathogenic | -1.098 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| P/Q | 0.9944 | likely_pathogenic | 0.9945 | pathogenic | -1.209 | Destabilizing | 1.0 | D | 0.866 | deleterious | D | 0.5729371 | None | None | I |
| P/R | 0.9941 | likely_pathogenic | 0.9946 | pathogenic | -0.84 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.5729371 | None | None | I |
| P/S | 0.9892 | likely_pathogenic | 0.9881 | pathogenic | -1.673 | Destabilizing | 1.0 | D | 0.856 | deleterious | D | 0.572430121 | None | None | I |
| P/T | 0.9818 | likely_pathogenic | 0.9786 | pathogenic | -1.521 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.572430121 | None | None | I |
| P/V | 0.9673 | likely_pathogenic | 0.9627 | pathogenic | -0.936 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| P/W | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -1.412 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| P/Y | 0.9986 | likely_pathogenic | 0.9985 | pathogenic | -1.091 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
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.