Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20570 | 61933;61934;61935 | chr2:178590017;178590016;178590015 | chr2:179454744;179454743;179454742 |
| N2AB | 18929 | 57010;57011;57012 | chr2:178590017;178590016;178590015 | chr2:179454744;179454743;179454742 |
| N2A | 18002 | 54229;54230;54231 | chr2:178590017;178590016;178590015 | chr2:179454744;179454743;179454742 |
| N2B | 11505 | 34738;34739;34740 | chr2:178590017;178590016;178590015 | chr2:179454744;179454743;179454742 |
| Novex-1 | 11630 | 35113;35114;35115 | chr2:178590017;178590016;178590015 | chr2:179454744;179454743;179454742 |
| Novex-2 | 11697 | 35314;35315;35316 | chr2:178590017;178590016;178590015 | chr2:179454744;179454743;179454742 |
| 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/A | rs769184808  |
-2.099 | 1.0 | D | 0.745 | 0.72 | 0.773216746489 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| P/A | rs769184808 |
-2.099 | 1.0 | D | 0.745 | 0.72 | 0.773216746489 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/A | rs769184808 |
-2.099 | 1.0 | D | 0.745 | 0.72 | 0.773216746489 | gnomAD-4.0.0 | 6.81924E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.47447E-05 | None | 0 | 0 | 7.63024E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9672 | likely_pathogenic | 0.9634 | pathogenic | -1.729 | Destabilizing | 1.0 | D | 0.745 | deleterious | D | 0.619823781 | None | None | N |
| P/C | 0.9975 | likely_pathogenic | 0.9973 | pathogenic | -2.029 | Highly Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| P/D | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.367 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| P/E | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -3.286 | Highly Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| P/F | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.139 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| P/G | 0.9971 | likely_pathogenic | 0.9974 | pathogenic | -2.076 | Highly Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| P/H | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -1.512 | Destabilizing | 1.0 | D | 0.79 | deleterious | D | 0.657807703 | None | None | N |
| P/I | 0.9978 | likely_pathogenic | 0.9974 | pathogenic | -0.815 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| P/K | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -1.628 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| P/L | 0.9933 | likely_pathogenic | 0.9929 | pathogenic | -0.815 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.641354373 | None | None | N |
| P/M | 0.9991 | likely_pathogenic | 0.9989 | pathogenic | -1.045 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| P/N | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.947 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| P/Q | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -2.061 | Highly Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| P/R | 0.9982 | likely_pathogenic | 0.9984 | pathogenic | -1.17 | Destabilizing | 1.0 | D | 0.812 | deleterious | D | 0.657605899 | None | None | N |
| P/S | 0.9973 | likely_pathogenic | 0.9973 | pathogenic | -2.294 | Highly Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.641152569 | None | None | N |
| P/T | 0.9961 | likely_pathogenic | 0.996 | pathogenic | -2.11 | Highly Destabilizing | 1.0 | D | 0.798 | deleterious | D | 0.657605899 | None | None | N |
| P/V | 0.9926 | likely_pathogenic | 0.9914 | pathogenic | -1.093 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.51 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| P/Y | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.207 | Destabilizing | 1.0 | D | 0.791 | 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.