Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20945 | 63058;63059;63060 | chr2:178588892;178588891;178588890 | chr2:179453619;179453618;179453617 |
| N2AB | 19304 | 58135;58136;58137 | chr2:178588892;178588891;178588890 | chr2:179453619;179453618;179453617 |
| N2A | 18377 | 55354;55355;55356 | chr2:178588892;178588891;178588890 | chr2:179453619;179453618;179453617 |
| N2B | 11880 | 35863;35864;35865 | chr2:178588892;178588891;178588890 | chr2:179453619;179453618;179453617 |
| Novex-1 | 12005 | 36238;36239;36240 | chr2:178588892;178588891;178588890 | chr2:179453619;179453618;179453617 |
| Novex-2 | 12072 | 36439;36440;36441 | chr2:178588892;178588891;178588890 | chr2:179453619;179453618;179453617 |
| 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/D | rs2049635543  |
None | 1.0 | D | 0.922 | 0.593 | 0.519187973786 | gnomAD-4.0.0 | 3.18538E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.57289E-05 | 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 | 0.9151 | likely_pathogenic | 0.9054 | pathogenic | -0.638 | Destabilizing | 1.0 | D | 0.757 | deleterious | D | 0.542546308 | None | None | I |
| G/C | 0.9675 | likely_pathogenic | 0.9637 | pathogenic | -0.987 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.555170061 | None | None | I |
| G/D | 0.9844 | likely_pathogenic | 0.9811 | pathogenic | -1.072 | Destabilizing | 1.0 | D | 0.922 | deleterious | D | 0.543306776 | None | None | I |
| G/E | 0.9922 | likely_pathogenic | 0.9919 | pathogenic | -1.222 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | I |
| G/F | 0.9954 | likely_pathogenic | 0.9956 | pathogenic | -1.242 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | I |
| G/H | 0.9961 | likely_pathogenic | 0.9954 | pathogenic | -0.872 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
| G/I | 0.9957 | likely_pathogenic | 0.995 | pathogenic | -0.654 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | I |
| G/K | 0.9966 | likely_pathogenic | 0.9964 | pathogenic | -1.132 | Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | I |
| G/L | 0.9941 | likely_pathogenic | 0.9934 | pathogenic | -0.654 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | I |
| G/M | 0.9966 | likely_pathogenic | 0.9964 | pathogenic | -0.515 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | I |
| G/N | 0.99 | likely_pathogenic | 0.9899 | pathogenic | -0.76 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/P | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -0.614 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | I |
| G/Q | 0.9906 | likely_pathogenic | 0.9908 | pathogenic | -1.102 | Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | I |
| G/R | 0.9888 | likely_pathogenic | 0.9864 | pathogenic | -0.595 | Destabilizing | 1.0 | D | 0.922 | deleterious | D | 0.543053287 | None | None | I |
| G/S | 0.8598 | likely_pathogenic | 0.8513 | pathogenic | -0.917 | Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.535544869 | None | None | I |
| G/T | 0.9762 | likely_pathogenic | 0.9763 | pathogenic | -1.009 | Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | I |
| G/V | 0.9912 | likely_pathogenic | 0.9908 | pathogenic | -0.614 | Destabilizing | 1.0 | D | 0.893 | deleterious | N | 0.517694103 | None | None | I |
| G/W | 0.9931 | likely_pathogenic | 0.9903 | pathogenic | -1.38 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | I |
| G/Y | 0.9946 | likely_pathogenic | 0.9935 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.895 | 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.