Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27370 | 82333;82334;82335 | chr2:178564024;178564023;178564022 | chr2:179428751;179428750;179428749 |
| N2AB | 25729 | 77410;77411;77412 | chr2:178564024;178564023;178564022 | chr2:179428751;179428750;179428749 |
| N2A | 24802 | 74629;74630;74631 | chr2:178564024;178564023;178564022 | chr2:179428751;179428750;179428749 |
| N2B | 18305 | 55138;55139;55140 | chr2:178564024;178564023;178564022 | chr2:179428751;179428750;179428749 |
| Novex-1 | 18430 | 55513;55514;55515 | chr2:178564024;178564023;178564022 | chr2:179428751;179428750;179428749 |
| Novex-2 | 18497 | 55714;55715;55716 | chr2:178564024;178564023;178564022 | chr2:179428751;179428750;179428749 |
| 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/L | rs1396821599  |
-0.524 | 1.0 | D | 0.785 | 0.507 | 0.820553477208 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs1396821599 |
-0.524 | 1.0 | D | 0.785 | 0.507 | 0.820553477208 | gnomAD-4.0.0 | 1.59134E-06 | None | None | None | None | N | None | 5.65611E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | None | None | 1.0 | D | 0.744 | 0.517 | 0.608370795877 | gnomAD-4.0.0 | 4.10533E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39696E-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 | 0.8873 | likely_pathogenic | 0.8901 | pathogenic | -1.649 | Destabilizing | 0.999 | D | 0.801 | deleterious | N | 0.519173863 | None | None | N |
| P/C | 0.9898 | likely_pathogenic | 0.9899 | pathogenic | -1.97 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| P/D | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -3.352 | Highly Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| P/E | 0.998 | likely_pathogenic | 0.998 | pathogenic | -3.263 | Highly Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| P/F | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -0.995 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| P/G | 0.9944 | likely_pathogenic | 0.9944 | pathogenic | -1.993 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| P/H | 0.9974 | likely_pathogenic | 0.9975 | pathogenic | -1.426 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| P/I | 0.9898 | likely_pathogenic | 0.9877 | pathogenic | -0.739 | Destabilizing | 1.0 | D | 0.736 | deleterious | None | None | None | None | N |
| P/K | 0.9986 | likely_pathogenic | 0.9986 | pathogenic | -1.522 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| P/L | 0.9631 | likely_pathogenic | 0.9599 | pathogenic | -0.739 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.561258176 | None | None | N |
| P/M | 0.9954 | likely_pathogenic | 0.9948 | pathogenic | -1.037 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| P/N | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -1.873 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| P/Q | 0.9968 | likely_pathogenic | 0.9969 | pathogenic | -1.962 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.560751197 | None | None | N |
| P/R | 0.9947 | likely_pathogenic | 0.9951 | pathogenic | -1.118 | Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.549141402 | None | None | N |
| P/S | 0.9893 | likely_pathogenic | 0.989 | pathogenic | -2.192 | Highly Destabilizing | 1.0 | D | 0.735 | deleterious | D | 0.548127444 | None | None | N |
| P/T | 0.9832 | likely_pathogenic | 0.9812 | pathogenic | -2.002 | Highly Destabilizing | 1.0 | D | 0.744 | deleterious | D | 0.542393453 | None | None | N |
| P/V | 0.974 | likely_pathogenic | 0.9696 | pathogenic | -1.017 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| P/W | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.382 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| P/Y | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -1.081 | Destabilizing | 1.0 | D | 0.803 | 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.