Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19112 | 57559;57560;57561 | chr2:178597748;178597747;178597746 | chr2:179462475;179462474;179462473 |
| N2AB | 17471 | 52636;52637;52638 | chr2:178597748;178597747;178597746 | chr2:179462475;179462474;179462473 |
| N2A | 16544 | 49855;49856;49857 | chr2:178597748;178597747;178597746 | chr2:179462475;179462474;179462473 |
| N2B | 10047 | 30364;30365;30366 | chr2:178597748;178597747;178597746 | chr2:179462475;179462474;179462473 |
| Novex-1 | 10172 | 30739;30740;30741 | chr2:178597748;178597747;178597746 | chr2:179462475;179462474;179462473 |
| Novex-2 | 10239 | 30940;30941;30942 | chr2:178597748;178597747;178597746 | chr2:179462475;179462474;179462473 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | None | None | 1.0 | D | 0.828 | 0.584 | 0.865381639045 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62501E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9798 | likely_pathogenic | 0.985 | pathogenic | -2.473 | Highly Destabilizing | 0.999 | D | 0.725 | prob.delet. | None | None | None | None | N |
| I/C | 0.9766 | likely_pathogenic | 0.9811 | pathogenic | -1.646 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| I/D | 0.9992 | likely_pathogenic | 0.9995 | pathogenic | -2.852 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| I/E | 0.9979 | likely_pathogenic | 0.9985 | pathogenic | -2.602 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| I/F | 0.6944 | likely_pathogenic | 0.7356 | pathogenic | -1.595 | Destabilizing | 1.0 | D | 0.792 | deleterious | N | 0.484619731 | None | None | N |
| I/G | 0.9961 | likely_pathogenic | 0.9973 | pathogenic | -2.984 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| I/H | 0.9961 | likely_pathogenic | 0.9971 | pathogenic | -2.259 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| I/K | 0.9938 | likely_pathogenic | 0.9957 | pathogenic | -1.925 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| I/L | 0.1862 | likely_benign | 0.1932 | benign | -0.975 | Destabilizing | 0.993 | D | 0.406 | neutral | N | 0.46293495 | None | None | N |
| I/M | 0.2776 | likely_benign | 0.3242 | benign | -0.878 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | D | 0.536059777 | None | None | N |
| I/N | 0.9878 | likely_pathogenic | 0.9922 | pathogenic | -2.403 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.525993124 | None | None | N |
| I/P | 0.9978 | likely_pathogenic | 0.9986 | pathogenic | -1.46 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| I/Q | 0.9952 | likely_pathogenic | 0.9961 | pathogenic | -2.231 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| I/R | 0.9932 | likely_pathogenic | 0.9947 | pathogenic | -1.73 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| I/S | 0.9916 | likely_pathogenic | 0.9943 | pathogenic | -3.034 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.525993124 | None | None | N |
| I/T | 0.9904 | likely_pathogenic | 0.9934 | pathogenic | -2.63 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.525739635 | None | None | N |
| I/V | 0.2268 | likely_benign | 0.2683 | benign | -1.46 | Destabilizing | 0.993 | D | 0.381 | neutral | D | 0.533904906 | None | None | N |
| I/W | 0.9928 | likely_pathogenic | 0.9952 | pathogenic | -1.871 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| I/Y | 0.9733 | likely_pathogenic | 0.9815 | pathogenic | -1.588 | Destabilizing | 1.0 | D | 0.823 | 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.