Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19126 | 57601;57602;57603 | chr2:178597706;178597705;178597704 | chr2:179462433;179462432;179462431 |
| N2AB | 17485 | 52678;52679;52680 | chr2:178597706;178597705;178597704 | chr2:179462433;179462432;179462431 |
| N2A | 16558 | 49897;49898;49899 | chr2:178597706;178597705;178597704 | chr2:179462433;179462432;179462431 |
| N2B | 10061 | 30406;30407;30408 | chr2:178597706;178597705;178597704 | chr2:179462433;179462432;179462431 |
| Novex-1 | 10186 | 30781;30782;30783 | chr2:178597706;178597705;178597704 | chr2:179462433;179462432;179462431 |
| Novex-2 | 10253 | 30982;30983;30984 | chr2:178597706;178597705;178597704 | chr2:179462433;179462432;179462431 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/G | rs201912036  |
-3.524 | 1.0 | D | 0.82 | 0.938 | 0.902846591328 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| W/G | rs201912036 |
-3.524 | 1.0 | D | 0.82 | 0.938 | 0.902846591328 | gnomAD-4.0.0 | 2.05315E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69887E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9974 | likely_pathogenic | 0.9988 | pathogenic | -2.64 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| W/C | 0.9981 | likely_pathogenic | 0.9991 | pathogenic | -1.727 | Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.684260115 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -2.622 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| W/E | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -2.492 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| W/F | 0.8086 | likely_pathogenic | 0.822 | pathogenic | -1.502 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| W/G | 0.9907 | likely_pathogenic | 0.9956 | pathogenic | -2.898 | Highly Destabilizing | 1.0 | D | 0.82 | deleterious | D | 0.684058311 | None | None | N |
| W/H | 0.9985 | likely_pathogenic | 0.999 | pathogenic | -1.846 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| W/I | 0.987 | likely_pathogenic | 0.9924 | pathogenic | -1.685 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -2.162 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| W/L | 0.9763 | likely_pathogenic | 0.9861 | pathogenic | -1.685 | Destabilizing | 1.0 | D | 0.82 | deleterious | D | 0.684058311 | None | None | N |
| W/M | 0.9935 | likely_pathogenic | 0.9964 | pathogenic | -1.371 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| W/N | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -2.847 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| W/P | 0.9995 | likely_pathogenic | 0.9998 | pathogenic | -2.029 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -2.622 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| W/R | 0.9996 | likely_pathogenic | 0.9998 | pathogenic | -2.022 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.684260115 | None | None | N |
| W/S | 0.9971 | likely_pathogenic | 0.9987 | pathogenic | -3.099 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.684260115 | None | None | N |
| W/T | 0.9982 | likely_pathogenic | 0.9991 | pathogenic | -2.9 | Highly Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| W/V | 0.9886 | likely_pathogenic | 0.9941 | pathogenic | -2.029 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| W/Y | 0.959 | likely_pathogenic | 0.968 | pathogenic | -1.347 | Destabilizing | 1.0 | D | 0.827 | 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.