Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31540 | 94843;94844;94845 | chr2:178546810;178546809;178546808 | chr2:179411537;179411536;179411535 |
| N2AB | 29899 | 89920;89921;89922 | chr2:178546810;178546809;178546808 | chr2:179411537;179411536;179411535 |
| N2A | 28972 | 87139;87140;87141 | chr2:178546810;178546809;178546808 | chr2:179411537;179411536;179411535 |
| N2B | 22475 | 67648;67649;67650 | chr2:178546810;178546809;178546808 | chr2:179411537;179411536;179411535 |
| Novex-1 | 22600 | 68023;68024;68025 | chr2:178546810;178546809;178546808 | chr2:179411537;179411536;179411535 |
| Novex-2 | 22667 | 68224;68225;68226 | chr2:178546810;178546809;178546808 | chr2:179411537;179411536;179411535 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 1.0 | N | 0.657 | 0.486 | 0.484109215787 | 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 |
| G/D | None | None | 1.0 | N | 0.845 | 0.571 | 0.546780063783 | gnomAD-4.0.0 | 4.80129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25001E-06 | 0 | 0 |
| G/S | rs1167936410  |
-1.043 | 1.0 | N | 0.693 | 0.513 | 0.463243292966 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs1167936410 |
-1.043 | 1.0 | N | 0.693 | 0.513 | 0.463243292966 | gnomAD-4.0.0 | 3.18786E-06 | None | None | None | None | N | None | 5.66572E-05 | 2.2876E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7708 | likely_pathogenic | 0.7613 | pathogenic | -0.54 | Destabilizing | 1.0 | D | 0.657 | neutral | N | 0.50305198 | None | None | N |
| G/C | 0.9608 | likely_pathogenic | 0.9579 | pathogenic | -0.821 | Destabilizing | 1.0 | D | 0.825 | deleterious | N | 0.519474394 | None | None | N |
| G/D | 0.9946 | likely_pathogenic | 0.9923 | pathogenic | -1.348 | Destabilizing | 1.0 | D | 0.845 | deleterious | N | 0.50133046 | None | None | N |
| G/E | 0.9962 | likely_pathogenic | 0.9958 | pathogenic | -1.267 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| G/F | 0.9976 | likely_pathogenic | 0.9976 | pathogenic | -0.593 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| G/H | 0.9968 | likely_pathogenic | 0.9959 | pathogenic | -1.509 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/I | 0.9983 | likely_pathogenic | 0.9984 | pathogenic | 0.266 | Stabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| G/K | 0.9988 | likely_pathogenic | 0.9986 | pathogenic | -1.021 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| G/L | 0.9972 | likely_pathogenic | 0.9969 | pathogenic | 0.266 | Stabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| G/M | 0.9977 | likely_pathogenic | 0.9977 | pathogenic | 0.042 | Stabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| G/N | 0.9919 | likely_pathogenic | 0.9883 | pathogenic | -1.008 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| G/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | 0.042 | Stabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| G/Q | 0.9938 | likely_pathogenic | 0.9931 | pathogenic | -0.955 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| G/R | 0.994 | likely_pathogenic | 0.9938 | pathogenic | -1.047 | Destabilizing | 1.0 | D | 0.903 | deleterious | N | 0.503190111 | None | None | N |
| G/S | 0.7362 | likely_pathogenic | 0.7158 | pathogenic | -1.345 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | N | 0.488604574 | None | None | N |
| G/T | 0.9807 | likely_pathogenic | 0.9825 | pathogenic | -1.158 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| G/V | 0.9958 | likely_pathogenic | 0.996 | pathogenic | 0.042 | Stabilizing | 1.0 | D | 0.915 | deleterious | D | 0.534994529 | None | None | N |
| G/W | 0.9946 | likely_pathogenic | 0.9943 | pathogenic | -1.254 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/Y | 0.9943 | likely_pathogenic | 0.994 | pathogenic | -0.67 | Destabilizing | 1.0 | D | 0.875 | 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.