Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20846 | 62761;62762;62763 | chr2:178589189;178589188;178589187 | chr2:179453916;179453915;179453914 |
| N2AB | 19205 | 57838;57839;57840 | chr2:178589189;178589188;178589187 | chr2:179453916;179453915;179453914 |
| N2A | 18278 | 55057;55058;55059 | chr2:178589189;178589188;178589187 | chr2:179453916;179453915;179453914 |
| N2B | 11781 | 35566;35567;35568 | chr2:178589189;178589188;178589187 | chr2:179453916;179453915;179453914 |
| Novex-1 | 11906 | 35941;35942;35943 | chr2:178589189;178589188;178589187 | chr2:179453916;179453915;179453914 |
| Novex-2 | 11973 | 36142;36143;36144 | chr2:178589189;178589188;178589187 | chr2:179453916;179453915;179453914 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs1467838556  |
-1.784 | 1.0 | D | 0.785 | 0.696 | 0.714404843072 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| A/T | rs1467838556 |
-1.784 | 1.0 | D | 0.785 | 0.696 | 0.714404843072 | gnomAD-4.0.0 | 1.59183E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85915E-06 | 0 | 0 |
| A/V | rs1060500518 |
-0.372 | 1.0 | N | 0.646 | 0.598 | 0.694171868089 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs1060500518 |
-0.372 | 1.0 | N | 0.646 | 0.598 | 0.694171868089 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| A/V | rs1060500518 |
-0.372 | 1.0 | N | 0.646 | 0.598 | 0.694171868089 | gnomAD-4.0.0 | 1.36363E-05 | None | None | None | None | N | None | 0 | 3.33589E-05 | None | 0 | 0 | None | 0 | 0 | 1.69546E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7799 | likely_pathogenic | 0.8219 | pathogenic | -1.265 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| A/D | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -2.069 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| A/E | 0.9986 | likely_pathogenic | 0.9988 | pathogenic | -1.971 | Destabilizing | 1.0 | D | 0.862 | deleterious | D | 0.645067263 | None | None | N |
| A/F | 0.9859 | likely_pathogenic | 0.9886 | pathogenic | -0.86 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| A/G | 0.5513 | ambiguous | 0.5399 | ambiguous | -1.531 | Destabilizing | 1.0 | D | 0.568 | neutral | D | 0.582181003 | None | None | N |
| A/H | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -1.766 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| A/I | 0.8013 | likely_pathogenic | 0.8302 | pathogenic | -0.188 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| A/K | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -1.347 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| A/L | 0.7099 | likely_pathogenic | 0.7357 | pathogenic | -0.188 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| A/M | 0.8897 | likely_pathogenic | 0.9125 | pathogenic | -0.388 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| A/N | 0.9978 | likely_pathogenic | 0.9982 | pathogenic | -1.382 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| A/P | 0.9985 | likely_pathogenic | 0.9987 | pathogenic | -0.466 | Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.619529151 | None | None | N |
| A/Q | 0.9957 | likely_pathogenic | 0.9963 | pathogenic | -1.369 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| A/R | 0.9977 | likely_pathogenic | 0.9979 | pathogenic | -1.215 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| A/S | 0.658 | likely_pathogenic | 0.671 | pathogenic | -1.782 | Destabilizing | 1.0 | D | 0.571 | neutral | D | 0.607285146 | None | None | N |
| A/T | 0.7585 | likely_pathogenic | 0.7644 | pathogenic | -1.579 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.64446185 | None | None | N |
| A/V | 0.4594 | ambiguous | 0.4744 | ambiguous | -0.466 | Destabilizing | 1.0 | D | 0.646 | neutral | N | 0.507949138 | None | None | N |
| A/W | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.429 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| A/Y | 0.9974 | likely_pathogenic | 0.9981 | pathogenic | -0.955 | Destabilizing | 1.0 | D | 0.903 | 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.