Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27045 | 81358;81359;81360 | chr2:178564999;178564998;178564997 | chr2:179429726;179429725;179429724 |
| N2AB | 25404 | 76435;76436;76437 | chr2:178564999;178564998;178564997 | chr2:179429726;179429725;179429724 |
| N2A | 24477 | 73654;73655;73656 | chr2:178564999;178564998;178564997 | chr2:179429726;179429725;179429724 |
| N2B | 17980 | 54163;54164;54165 | chr2:178564999;178564998;178564997 | chr2:179429726;179429725;179429724 |
| Novex-1 | 18105 | 54538;54539;54540 | chr2:178564999;178564998;178564997 | chr2:179429726;179429725;179429724 |
| Novex-2 | 18172 | 54739;54740;54741 | chr2:178564999;178564998;178564997 | chr2:179429726;179429725;179429724 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs190041566  |
-0.532 | 0.999 | N | 0.669 | 0.693 | 0.404733080969 | gnomAD-2.1.1 | 3.64E-05 | None | None | None | None | N | None | 0 | 2.04368E-04 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| F/L | rs190041566 |
-0.532 | 0.999 | N | 0.669 | 0.693 | 0.404733080969 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| F/L | rs190041566 |
-0.532 | 0.999 | N | 0.669 | 0.693 | 0.404733080969 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| F/L | rs190041566 |
-0.532 | 0.999 | N | 0.669 | 0.693 | 0.404733080969 | gnomAD-4.0.0 | 1.55059E-05 | None | None | None | None | N | None | 0 | 1.00375E-04 | None | 0 | 0 | None | 0 | 0 | 1.61119E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9947 | likely_pathogenic | 0.9942 | pathogenic | -1.828 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| F/C | 0.9422 | likely_pathogenic | 0.9315 | pathogenic | -1.04 | Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.546973172 | None | None | N |
| F/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.852 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| F/E | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.613 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| F/G | 0.9974 | likely_pathogenic | 0.9972 | pathogenic | -2.259 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| F/H | 0.9958 | likely_pathogenic | 0.9962 | pathogenic | -2.137 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| F/I | 0.8236 | likely_pathogenic | 0.8022 | pathogenic | -0.412 | Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.503542051 | None | None | N |
| F/K | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.863 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| F/L | 0.9832 | likely_pathogenic | 0.976 | pathogenic | -0.412 | Destabilizing | 0.999 | D | 0.669 | neutral | N | 0.503986578 | None | None | N |
| F/M | 0.9241 | likely_pathogenic | 0.9055 | pathogenic | -0.343 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| F/N | 0.9986 | likely_pathogenic | 0.9987 | pathogenic | -2.625 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -0.897 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| F/Q | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -2.221 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| F/R | 0.999 | likely_pathogenic | 0.9992 | pathogenic | -2.186 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| F/S | 0.9973 | likely_pathogenic | 0.997 | pathogenic | -2.851 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.558494061 | None | None | N |
| F/T | 0.9963 | likely_pathogenic | 0.996 | pathogenic | -2.482 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| F/V | 0.846 | likely_pathogenic | 0.8357 | pathogenic | -0.897 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.499739708 | None | None | N |
| F/W | 0.9404 | likely_pathogenic | 0.944 | pathogenic | -0.357 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| F/Y | 0.7157 | likely_pathogenic | 0.6893 | pathogenic | -0.695 | Destabilizing | 0.999 | D | 0.577 | neutral | N | 0.508674294 | 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.