Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29869 | 89830;89831;89832 | chr2:178553295;178553294;178553293 | chr2:179418022;179418021;179418020 |
| N2AB | 28228 | 84907;84908;84909 | chr2:178553295;178553294;178553293 | chr2:179418022;179418021;179418020 |
| N2A | 27301 | 82126;82127;82128 | chr2:178553295;178553294;178553293 | chr2:179418022;179418021;179418020 |
| N2B | 20804 | 62635;62636;62637 | chr2:178553295;178553294;178553293 | chr2:179418022;179418021;179418020 |
| Novex-1 | 20929 | 63010;63011;63012 | chr2:178553295;178553294;178553293 | chr2:179418022;179418021;179418020 |
| Novex-2 | 20996 | 63211;63212;63213 | chr2:178553295;178553294;178553293 | chr2:179418022;179418021;179418020 |
| 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 | rs770203238  |
None | 1.0 | D | 0.859 | 0.741 | 0.68971630469 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/R | rs770203238 |
None | 1.0 | D | 0.859 | 0.741 | 0.68971630469 | gnomAD-4.0.0 | 6.56953E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46972E-05 | 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 | 0.7384 | likely_pathogenic | 0.7324 | pathogenic | -1.679 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.529789603 | None | None | N |
| P/C | 0.9749 | likely_pathogenic | 0.9752 | pathogenic | -1.126 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| P/D | 0.9989 | likely_pathogenic | 0.9988 | pathogenic | -1.719 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/E | 0.9962 | likely_pathogenic | 0.9959 | pathogenic | -1.672 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/F | 0.9979 | likely_pathogenic | 0.9974 | pathogenic | -1.286 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/G | 0.9876 | likely_pathogenic | 0.9863 | pathogenic | -2.049 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/H | 0.9926 | likely_pathogenic | 0.9927 | pathogenic | -1.753 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.566860713 | None | None | N |
| P/I | 0.9661 | likely_pathogenic | 0.961 | pathogenic | -0.736 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/K | 0.9958 | likely_pathogenic | 0.9958 | pathogenic | -1.318 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/L | 0.9111 | likely_pathogenic | 0.8979 | pathogenic | -0.736 | Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.547801271 | None | None | N |
| P/M | 0.9833 | likely_pathogenic | 0.9821 | pathogenic | -0.587 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| P/N | 0.9981 | likely_pathogenic | 0.998 | pathogenic | -1.188 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/Q | 0.9869 | likely_pathogenic | 0.9872 | pathogenic | -1.299 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| P/R | 0.9882 | likely_pathogenic | 0.9875 | pathogenic | -0.923 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.5729371 | None | None | N |
| P/S | 0.9703 | likely_pathogenic | 0.9678 | pathogenic | -1.729 | Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.551857104 | None | None | N |
| P/T | 0.9489 | likely_pathogenic | 0.9471 | pathogenic | -1.57 | Destabilizing | 1.0 | D | 0.852 | deleterious | D | 0.572430121 | None | None | N |
| P/V | 0.9106 | likely_pathogenic | 0.8991 | pathogenic | -1.017 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| P/W | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -1.583 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| P/Y | 0.9981 | likely_pathogenic | 0.9979 | pathogenic | -1.249 | Destabilizing | 1.0 | D | 0.845 | 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.