Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23948 | 72067;72068;72069 | chr2:178574290;178574289;178574288 | chr2:179439017;179439016;179439015 |
| N2AB | 22307 | 67144;67145;67146 | chr2:178574290;178574289;178574288 | chr2:179439017;179439016;179439015 |
| N2A | 21380 | 64363;64364;64365 | chr2:178574290;178574289;178574288 | chr2:179439017;179439016;179439015 |
| N2B | 14883 | 44872;44873;44874 | chr2:178574290;178574289;178574288 | chr2:179439017;179439016;179439015 |
| Novex-1 | 15008 | 45247;45248;45249 | chr2:178574290;178574289;178574288 | chr2:179439017;179439016;179439015 |
| Novex-2 | 15075 | 45448;45449;45450 | chr2:178574290;178574289;178574288 | chr2:179439017;179439016;179439015 |
| 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/H | rs762929729  |
-1.573 | 1.0 | D | 0.889 | 0.788 | 0.726553868879 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| P/H | rs762929729 |
-1.573 | 1.0 | D | 0.889 | 0.788 | 0.726553868879 | gnomAD-4.0.0 | 1.59212E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85938E-06 | 0 | 0 |
| P/L | None | None | 1.0 | D | 0.906 | 0.777 | 0.702054141035 | gnomAD-4.0.0 | 1.59212E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43312E-05 | 0 |
| P/T | None | None | 1.0 | D | 0.867 | 0.79 | 0.676191613372 | gnomAD-4.0.0 | 1.59209E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85933E-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 | 0.7724 | likely_pathogenic | 0.7811 | pathogenic | -2.117 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.597682443 | None | None | N |
| P/C | 0.9853 | likely_pathogenic | 0.9841 | pathogenic | -1.599 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| P/D | 0.9968 | likely_pathogenic | 0.9961 | pathogenic | -2.98 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/E | 0.9894 | likely_pathogenic | 0.988 | pathogenic | -2.85 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/F | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -1.358 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| P/G | 0.9738 | likely_pathogenic | 0.9736 | pathogenic | -2.561 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| P/H | 0.9927 | likely_pathogenic | 0.9911 | pathogenic | -2.318 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.633142914 | None | None | N |
| P/I | 0.9879 | likely_pathogenic | 0.988 | pathogenic | -0.905 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| P/K | 0.9956 | likely_pathogenic | 0.9949 | pathogenic | -1.912 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| P/L | 0.9377 | likely_pathogenic | 0.9407 | pathogenic | -0.905 | Destabilizing | 1.0 | D | 0.906 | deleterious | D | 0.639673884 | None | None | N |
| P/M | 0.9877 | likely_pathogenic | 0.9878 | pathogenic | -0.791 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/N | 0.9944 | likely_pathogenic | 0.9935 | pathogenic | -2.033 | Highly Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| P/Q | 0.9858 | likely_pathogenic | 0.9854 | pathogenic | -2.025 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| P/R | 0.9884 | likely_pathogenic | 0.9866 | pathogenic | -1.512 | Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.620141693 | None | None | N |
| P/S | 0.9528 | likely_pathogenic | 0.9531 | pathogenic | -2.52 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | D | 0.555953526 | None | None | N |
| P/T | 0.9137 | likely_pathogenic | 0.911 | pathogenic | -2.281 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.619939889 | None | None | N |
| P/V | 0.9578 | likely_pathogenic | 0.9582 | pathogenic | -1.282 | Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | N |
| P/W | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -1.875 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| P/Y | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -1.559 | Destabilizing | 1.0 | D | 0.906 | 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.