Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30101 | 90526;90527;90528 | chr2:178552599;178552598;178552597 | chr2:179417326;179417325;179417324 |
| N2AB | 28460 | 85603;85604;85605 | chr2:178552599;178552598;178552597 | chr2:179417326;179417325;179417324 |
| N2A | 27533 | 82822;82823;82824 | chr2:178552599;178552598;178552597 | chr2:179417326;179417325;179417324 |
| N2B | 21036 | 63331;63332;63333 | chr2:178552599;178552598;178552597 | chr2:179417326;179417325;179417324 |
| Novex-1 | 21161 | 63706;63707;63708 | chr2:178552599;178552598;178552597 | chr2:179417326;179417325;179417324 |
| Novex-2 | 21228 | 63907;63908;63909 | chr2:178552599;178552598;178552597 | chr2:179417326;179417325;179417324 |
| 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 | rs777004601  |
-1.377 | 0.999 | N | 0.653 | 0.508 | 0.569419966681 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| F/L | rs777004601 |
-1.377 | 0.999 | N | 0.653 | 0.508 | 0.569419966681 | gnomAD-4.0.0 | 1.59116E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43279E-05 | 0 |
| F/V | None | None | 1.0 | N | 0.673 | 0.544 | 0.666230076168 | gnomAD-4.0.0 | 1.59116E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.8826E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9963 | likely_pathogenic | 0.9946 | pathogenic | -2.509 | Highly Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| F/C | 0.9677 | likely_pathogenic | 0.95 | pathogenic | -1.675 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.549441934 | None | None | N |
| F/D | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -3.64 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| F/E | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -3.398 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| F/G | 0.9965 | likely_pathogenic | 0.9948 | pathogenic | -2.965 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| F/H | 0.9958 | likely_pathogenic | 0.9945 | pathogenic | -2.128 | Highly Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| F/I | 0.8604 | likely_pathogenic | 0.81 | pathogenic | -1.0 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.493008666 | None | None | N |
| F/K | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -2.414 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| F/L | 0.9884 | likely_pathogenic | 0.9816 | pathogenic | -1.0 | Destabilizing | 0.999 | D | 0.653 | neutral | N | 0.498555301 | None | None | N |
| F/M | 0.9384 | likely_pathogenic | 0.9141 | pathogenic | -0.769 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| F/N | 0.9978 | likely_pathogenic | 0.9971 | pathogenic | -3.174 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.519 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| F/Q | 0.9991 | likely_pathogenic | 0.9989 | pathogenic | -2.935 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| F/R | 0.9987 | likely_pathogenic | 0.9985 | pathogenic | -2.292 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| F/S | 0.9976 | likely_pathogenic | 0.9964 | pathogenic | -3.562 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.549441934 | None | None | N |
| F/T | 0.9972 | likely_pathogenic | 0.996 | pathogenic | -3.191 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| F/V | 0.9048 | likely_pathogenic | 0.872 | pathogenic | -1.519 | Destabilizing | 1.0 | D | 0.673 | neutral | N | 0.490852165 | None | None | N |
| F/W | 0.9153 | likely_pathogenic | 0.8901 | pathogenic | -0.538 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| F/Y | 0.5344 | ambiguous | 0.5164 | ambiguous | -0.911 | Destabilizing | 0.999 | D | 0.577 | neutral | N | 0.493367969 | 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.