Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33134 | 99625;99626;99627 | chr2:178537807;178537806;178537805 | chr2:179402534;179402533;179402532 |
| N2AB | 31493 | 94702;94703;94704 | chr2:178537807;178537806;178537805 | chr2:179402534;179402533;179402532 |
| N2A | 30566 | 91921;91922;91923 | chr2:178537807;178537806;178537805 | chr2:179402534;179402533;179402532 |
| N2B | 24069 | 72430;72431;72432 | chr2:178537807;178537806;178537805 | chr2:179402534;179402533;179402532 |
| Novex-1 | 24194 | 72805;72806;72807 | chr2:178537807;178537806;178537805 | chr2:179402534;179402533;179402532 |
| Novex-2 | 24261 | 73006;73007;73008 | chr2:178537807;178537806;178537805 | chr2:179402534;179402533;179402532 |
| 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/C | rs1222519078  |
-1.621 | 1.0 | D | 0.753 | 0.797 | 0.797336444703 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| W/C | rs1222519078 |
-1.621 | 1.0 | D | 0.753 | 0.797 | 0.797336444703 | gnomAD-4.0.0 | 6.84244E-07 | None | None | None | None | N | None | 0 | 2.23694E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/R | None | None | 1.0 | D | 0.848 | 0.889 | 0.958484061125 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| W/S | None | None | 1.0 | D | 0.827 | 0.788 | 0.93578121469 | gnomAD-4.0.0 | 1.59151E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85855E-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 | 0.9984 | likely_pathogenic | 0.9976 | pathogenic | -3.348 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| W/C | 0.9987 | likely_pathogenic | 0.9981 | pathogenic | -1.999 | Destabilizing | 1.0 | D | 0.753 | deleterious | D | 0.716066672 | None | None | N |
| W/D | 0.9999 | likely_pathogenic | 0.9997 | pathogenic | -3.59 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| W/E | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -3.488 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| W/F | 0.7631 | likely_pathogenic | 0.7681 | pathogenic | -2.145 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| W/G | 0.9922 | likely_pathogenic | 0.989 | pathogenic | -3.57 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.715864868 | None | None | N |
| W/H | 0.9986 | likely_pathogenic | 0.9981 | pathogenic | -2.348 | Highly Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| W/I | 0.9912 | likely_pathogenic | 0.9881 | pathogenic | -2.478 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.727 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| W/L | 0.9792 | likely_pathogenic | 0.9707 | pathogenic | -2.478 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.699845507 | None | None | N |
| W/M | 0.9958 | likely_pathogenic | 0.9946 | pathogenic | -1.894 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| W/N | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -3.416 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| W/P | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -2.798 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.293 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| W/R | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -2.345 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.716066672 | None | None | N |
| W/S | 0.9984 | likely_pathogenic | 0.9976 | pathogenic | -3.572 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.716066672 | None | None | N |
| W/T | 0.9985 | likely_pathogenic | 0.9977 | pathogenic | -3.405 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| W/V | 0.9929 | likely_pathogenic | 0.9901 | pathogenic | -2.798 | Highly Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| W/Y | 0.9431 | likely_pathogenic | 0.9397 | pathogenic | -2.034 | Highly Destabilizing | 1.0 | D | 0.803 | 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.