Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26095 | 78508;78509;78510 | chr2:178567849;178567848;178567847 | chr2:179432576;179432575;179432574 |
| N2AB | 24454 | 73585;73586;73587 | chr2:178567849;178567848;178567847 | chr2:179432576;179432575;179432574 |
| N2A | 23527 | 70804;70805;70806 | chr2:178567849;178567848;178567847 | chr2:179432576;179432575;179432574 |
| N2B | 17030 | 51313;51314;51315 | chr2:178567849;178567848;178567847 | chr2:179432576;179432575;179432574 |
| Novex-1 | 17155 | 51688;51689;51690 | chr2:178567849;178567848;178567847 | chr2:179432576;179432575;179432574 |
| Novex-2 | 17222 | 51889;51890;51891 | chr2:178567849;178567848;178567847 | chr2:179432576;179432575;179432574 |
| 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/A | rs912485960  |
-1.334 | 1.0 | N | 0.849 | 0.502 | 0.438593652726 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/A | rs912485960 |
-1.334 | 1.0 | N | 0.849 | 0.502 | 0.438593652726 | gnomAD-3.1.2 | 5.92E-05 | None | None | None | None | N | None | 0 | 5.90551E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/A | rs912485960 |
-1.334 | 1.0 | N | 0.849 | 0.502 | 0.438593652726 | gnomAD-4.0.0 | 2.1789E-05 | None | None | None | None | N | None | 0 | 2.54349E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 5.69022E-05 |
| P/Q | rs918621187 |
None | 1.0 | D | 0.863 | 0.545 | 0.535774538982 | 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/Q | rs918621187 |
None | 1.0 | D | 0.863 | 0.545 | 0.535774538982 | gnomAD-4.0.0 | 3.04523E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.61499E-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 | 0.736 | likely_pathogenic | 0.6519 | pathogenic | -2.049 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | N | 0.507007863 | None | None | N |
| P/C | 0.9657 | likely_pathogenic | 0.9579 | pathogenic | -2.182 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/D | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -3.127 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/E | 0.9984 | likely_pathogenic | 0.9973 | pathogenic | -2.938 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| P/F | 0.9964 | likely_pathogenic | 0.9957 | pathogenic | -1.207 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/G | 0.9907 | likely_pathogenic | 0.9855 | pathogenic | -2.537 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| P/H | 0.9979 | likely_pathogenic | 0.9962 | pathogenic | -2.206 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/I | 0.8338 | likely_pathogenic | 0.8368 | pathogenic | -0.697 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| P/K | 0.9983 | likely_pathogenic | 0.9973 | pathogenic | -1.684 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| P/L | 0.6899 | likely_pathogenic | 0.6895 | pathogenic | -0.697 | Destabilizing | 1.0 | D | 0.89 | deleterious | N | 0.492649277 | None | None | N |
| P/M | 0.9529 | likely_pathogenic | 0.9477 | pathogenic | -1.119 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| P/N | 0.9991 | likely_pathogenic | 0.9983 | pathogenic | -2.066 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| P/Q | 0.9964 | likely_pathogenic | 0.9937 | pathogenic | -1.977 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.537482382 | None | None | N |
| P/R | 0.9955 | likely_pathogenic | 0.9928 | pathogenic | -1.483 | Destabilizing | 1.0 | D | 0.909 | deleterious | D | 0.549003271 | None | None | N |
| P/S | 0.986 | likely_pathogenic | 0.9727 | pathogenic | -2.607 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | D | 0.537228892 | None | None | N |
| P/T | 0.935 | likely_pathogenic | 0.8948 | pathogenic | -2.283 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.548496292 | None | None | N |
| P/V | 0.6599 | likely_pathogenic | 0.6485 | pathogenic | -1.122 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| P/W | 0.9995 | likely_pathogenic | 0.9992 | pathogenic | -1.676 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/Y | 0.9991 | likely_pathogenic | 0.9987 | pathogenic | -1.331 | Destabilizing | 1.0 | D | 0.908 | 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.