Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22830 | 68713;68714;68715 | chr2:178578027;178578026;178578025 | chr2:179442754;179442753;179442752 |
| N2AB | 21189 | 63790;63791;63792 | chr2:178578027;178578026;178578025 | chr2:179442754;179442753;179442752 |
| N2A | 20262 | 61009;61010;61011 | chr2:178578027;178578026;178578025 | chr2:179442754;179442753;179442752 |
| N2B | 13765 | 41518;41519;41520 | chr2:178578027;178578026;178578025 | chr2:179442754;179442753;179442752 |
| Novex-1 | 13890 | 41893;41894;41895 | chr2:178578027;178578026;178578025 | chr2:179442754;179442753;179442752 |
| Novex-2 | 13957 | 42094;42095;42096 | chr2:178578027;178578026;178578025 | chr2:179442754;179442753;179442752 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs2046834527  |
None | 0.999 | D | 0.857 | 0.729 | 0.50466331119 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| S/G | rs2046834527 |
None | 0.999 | D | 0.857 | 0.729 | 0.50466331119 | gnomAD-4.0.0 | 7.43893E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.32613E-06 | 0 | 1.60159E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.5216 | ambiguous | 0.5253 | ambiguous | -0.712 | Destabilizing | 0.998 | D | 0.861 | deleterious | None | None | None | None | I |
| S/C | 0.595 | likely_pathogenic | 0.6151 | pathogenic | -0.647 | Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.553067964 | None | None | I |
| S/D | 0.9966 | likely_pathogenic | 0.9962 | pathogenic | -1.571 | Destabilizing | 0.999 | D | 0.892 | deleterious | None | None | None | None | I |
| S/E | 0.9977 | likely_pathogenic | 0.9978 | pathogenic | -1.421 | Destabilizing | 0.999 | D | 0.887 | deleterious | None | None | None | None | I |
| S/F | 0.9943 | likely_pathogenic | 0.9956 | pathogenic | -0.341 | Destabilizing | 1.0 | D | 0.934 | deleterious | None | None | None | None | I |
| S/G | 0.4917 | ambiguous | 0.4783 | ambiguous | -1.078 | Destabilizing | 0.999 | D | 0.857 | deleterious | D | 0.528669831 | None | None | I |
| S/H | 0.9924 | likely_pathogenic | 0.9938 | pathogenic | -1.52 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | I |
| S/I | 0.9865 | likely_pathogenic | 0.9876 | pathogenic | 0.205 | Stabilizing | 1.0 | D | 0.933 | deleterious | D | 0.57066524 | None | None | I |
| S/K | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -0.848 | Destabilizing | 0.999 | D | 0.883 | deleterious | None | None | None | None | I |
| S/L | 0.9529 | likely_pathogenic | 0.9625 | pathogenic | 0.205 | Stabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | I |
| S/M | 0.9796 | likely_pathogenic | 0.9802 | pathogenic | 0.122 | Stabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | I |
| S/N | 0.9815 | likely_pathogenic | 0.981 | pathogenic | -1.313 | Destabilizing | 0.999 | D | 0.895 | deleterious | D | 0.57041175 | None | None | I |
| S/P | 0.9938 | likely_pathogenic | 0.9954 | pathogenic | -0.066 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | I |
| S/Q | 0.996 | likely_pathogenic | 0.9964 | pathogenic | -1.097 | Destabilizing | 1.0 | D | 0.926 | deleterious | None | None | None | None | I |
| S/R | 0.9988 | likely_pathogenic | 0.999 | pathogenic | -1.113 | Destabilizing | 1.0 | D | 0.911 | deleterious | D | 0.551547026 | None | None | I |
| S/T | 0.6764 | likely_pathogenic | 0.6639 | pathogenic | -0.981 | Destabilizing | 0.999 | D | 0.881 | deleterious | D | 0.526895405 | None | None | I |
| S/V | 0.9625 | likely_pathogenic | 0.9618 | pathogenic | -0.066 | Destabilizing | 1.0 | D | 0.924 | deleterious | None | None | None | None | I |
| S/W | 0.9958 | likely_pathogenic | 0.9972 | pathogenic | -0.67 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | I |
| S/Y | 0.9926 | likely_pathogenic | 0.9945 | pathogenic | -0.276 | Destabilizing | 1.0 | D | 0.935 | deleterious | None | None | None | None | I |
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.