Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27790 | 83593;83594;83595 | chr2:178562764;178562763;178562762 | chr2:179427491;179427490;179427489 |
| N2AB | 26149 | 78670;78671;78672 | chr2:178562764;178562763;178562762 | chr2:179427491;179427490;179427489 |
| N2A | 25222 | 75889;75890;75891 | chr2:178562764;178562763;178562762 | chr2:179427491;179427490;179427489 |
| N2B | 18725 | 56398;56399;56400 | chr2:178562764;178562763;178562762 | chr2:179427491;179427490;179427489 |
| Novex-1 | 18850 | 56773;56774;56775 | chr2:178562764;178562763;178562762 | chr2:179427491;179427490;179427489 |
| Novex-2 | 18917 | 56974;56975;56976 | chr2:178562764;178562763;178562762 | chr2:179427491;179427490;179427489 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | rs1427845923  |
-2.489 | 1.0 | N | 0.822 | 0.628 | 0.463157528383 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| P/S | rs1427845923 |
-2.489 | 1.0 | N | 0.822 | 0.628 | 0.463157528383 | gnomAD-4.0.0 | 4.79146E-06 | None | None | None | None | N | None | 2.99133E-05 | 2.23854E-05 | None | 0 | 0 | None | 0 | 0 | 3.59859E-06 | 1.15999E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.8658 | likely_pathogenic | 0.8661 | pathogenic | -2.095 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | D | 0.523237057 | None | None | N |
| P/C | 0.989 | likely_pathogenic | 0.9898 | pathogenic | -1.488 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/D | 0.999 | likely_pathogenic | 0.999 | pathogenic | -2.812 | Highly Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| P/E | 0.9981 | likely_pathogenic | 0.9981 | pathogenic | -2.674 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| P/F | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.37 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/G | 0.9894 | likely_pathogenic | 0.9892 | pathogenic | -2.554 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/H | 0.9973 | likely_pathogenic | 0.9973 | pathogenic | -2.359 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| P/I | 0.9954 | likely_pathogenic | 0.9959 | pathogenic | -0.844 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/K | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -1.923 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| P/L | 0.9788 | likely_pathogenic | 0.9794 | pathogenic | -0.844 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.546670457 | None | None | N |
| P/M | 0.9973 | likely_pathogenic | 0.9975 | pathogenic | -0.668 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/N | 0.9985 | likely_pathogenic | 0.9984 | pathogenic | -2.018 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| P/Q | 0.9965 | likely_pathogenic | 0.9966 | pathogenic | -1.995 | Destabilizing | 1.0 | D | 0.816 | deleterious | D | 0.555028249 | None | None | N |
| P/R | 0.9968 | likely_pathogenic | 0.997 | pathogenic | -1.548 | Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.530087139 | None | None | N |
| P/S | 0.9718 | likely_pathogenic | 0.9704 | pathogenic | -2.529 | Highly Destabilizing | 1.0 | D | 0.822 | deleterious | N | 0.513602272 | None | None | N |
| P/T | 0.9797 | likely_pathogenic | 0.9807 | pathogenic | -2.276 | Highly Destabilizing | 1.0 | D | 0.822 | deleterious | D | 0.533694763 | None | None | N |
| P/V | 0.9805 | likely_pathogenic | 0.9825 | pathogenic | -1.233 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.892 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/Y | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.551 | Destabilizing | 1.0 | D | 0.879 | 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.