Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14618 | 44077;44078;44079 | chr2:178631196;178631195;178631194 | chr2:179495923;179495922;179495921 |
| N2AB | 12977 | 39154;39155;39156 | chr2:178631196;178631195;178631194 | chr2:179495923;179495922;179495921 |
| N2A | 12050 | 36373;36374;36375 | chr2:178631196;178631195;178631194 | chr2:179495923;179495922;179495921 |
| N2B | 5553 | 16882;16883;16884 | chr2:178631196;178631195;178631194 | chr2:179495923;179495922;179495921 |
| Novex-1 | 5678 | 17257;17258;17259 | chr2:178631196;178631195;178631194 | chr2:179495923;179495922;179495921 |
| Novex-2 | 5745 | 17458;17459;17460 | chr2:178631196;178631195;178631194 | chr2:179495923;179495922;179495921 |
| 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/L | None | None | 1.0 | D | 0.807 | 0.87 | 0.945421230048 | gnomAD-4.0.0 | 6.84456E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99609E-07 | 0 | 0 |
| W/R | rs1307996353  |
None | 1.0 | D | 0.864 | 0.936 | 0.960038039894 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/R | rs1307996353 |
None | 1.0 | D | 0.864 | 0.936 | 0.960038039894 | gnomAD-4.0.0 | 6.5773E-06 | None | None | None | None | N | None | 0 | 6.55652E-05 | None | 0 | 0 | None | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9931 | likely_pathogenic | 0.9939 | pathogenic | -3.0 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| W/C | 0.9962 | likely_pathogenic | 0.9971 | pathogenic | -1.483 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.771570322 | None | None | N |
| W/D | 0.9983 | likely_pathogenic | 0.9986 | pathogenic | -3.623 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| W/E | 0.9984 | likely_pathogenic | 0.9986 | pathogenic | -3.503 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| W/F | 0.6838 | likely_pathogenic | 0.7113 | pathogenic | -1.928 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| W/G | 0.9694 | likely_pathogenic | 0.9737 | pathogenic | -3.239 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.771632732 | None | None | N |
| W/H | 0.9962 | likely_pathogenic | 0.9968 | pathogenic | -2.475 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| W/I | 0.9478 | likely_pathogenic | 0.956 | pathogenic | -2.083 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| W/K | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -2.59 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| W/L | 0.9188 | likely_pathogenic | 0.9321 | pathogenic | -2.083 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.771632732 | None | None | N |
| W/M | 0.9862 | likely_pathogenic | 0.9876 | pathogenic | -1.454 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| W/N | 0.998 | likely_pathogenic | 0.9983 | pathogenic | -3.358 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| W/P | 0.9984 | likely_pathogenic | 0.9986 | pathogenic | -2.418 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| W/Q | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -3.146 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| W/R | 0.9989 | likely_pathogenic | 0.9992 | pathogenic | -2.449 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.771570322 | None | None | N |
| W/S | 0.9911 | likely_pathogenic | 0.9927 | pathogenic | -3.392 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.771570322 | None | None | N |
| W/T | 0.9923 | likely_pathogenic | 0.9938 | pathogenic | -3.195 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| W/V | 0.9673 | likely_pathogenic | 0.9724 | pathogenic | -2.418 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| W/Y | 0.8926 | likely_pathogenic | 0.9036 | pathogenic | -1.802 | Destabilizing | 1.0 | D | 0.796 | 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.