Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28273 | 85042;85043;85044 | chr2:178561315;178561314;178561313 | chr2:179426042;179426041;179426040 |
| N2AB | 26632 | 80119;80120;80121 | chr2:178561315;178561314;178561313 | chr2:179426042;179426041;179426040 |
| N2A | 25705 | 77338;77339;77340 | chr2:178561315;178561314;178561313 | chr2:179426042;179426041;179426040 |
| N2B | 19208 | 57847;57848;57849 | chr2:178561315;178561314;178561313 | chr2:179426042;179426041;179426040 |
| Novex-1 | 19333 | 58222;58223;58224 | chr2:178561315;178561314;178561313 | chr2:179426042;179426041;179426040 |
| Novex-2 | 19400 | 58423;58424;58425 | chr2:178561315;178561314;178561313 | chr2:179426042;179426041;179426040 |
| 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 | rs72648222  |
None | 1.0 | D | 0.823 | 0.862 | 0.717260364112 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
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 | 0.9976 | likely_pathogenic | 0.9983 | pathogenic | -3.575 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| W/C | 0.9987 | likely_pathogenic | 0.9992 | pathogenic | -2.021 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.682893999 | None | None | N |
| W/D | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -3.862 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| W/E | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -3.75 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| W/F | 0.7573 | likely_pathogenic | 0.7886 | pathogenic | -2.281 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| W/G | 0.9854 | likely_pathogenic | 0.988 | pathogenic | -3.809 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.682893999 | None | None | N |
| W/H | 0.9981 | likely_pathogenic | 0.9986 | pathogenic | -2.768 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| W/I | 0.9924 | likely_pathogenic | 0.9938 | pathogenic | -2.655 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.859 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| W/L | 0.9823 | likely_pathogenic | 0.9858 | pathogenic | -2.655 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.681683173 | None | None | N |
| W/M | 0.9963 | likely_pathogenic | 0.9973 | pathogenic | -2.066 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| W/N | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -3.55 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| W/P | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -2.994 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -3.409 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| W/R | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -2.481 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.682893999 | None | None | N |
| W/S | 0.9969 | likely_pathogenic | 0.9979 | pathogenic | -3.679 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | D | 0.682893999 | None | None | N |
| W/T | 0.9985 | likely_pathogenic | 0.9989 | pathogenic | -3.495 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| W/V | 0.9941 | likely_pathogenic | 0.9955 | pathogenic | -2.994 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| W/Y | 0.9477 | likely_pathogenic | 0.9578 | pathogenic | -2.154 | Highly Destabilizing | 1.0 | D | 0.832 | 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.