Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27574 | 82945;82946;82947 | chr2:178563412;178563411;178563410 | chr2:179428139;179428138;179428137 |
| N2AB | 25933 | 78022;78023;78024 | chr2:178563412;178563411;178563410 | chr2:179428139;179428138;179428137 |
| N2A | 25006 | 75241;75242;75243 | chr2:178563412;178563411;178563410 | chr2:179428139;179428138;179428137 |
| N2B | 18509 | 55750;55751;55752 | chr2:178563412;178563411;178563410 | chr2:179428139;179428138;179428137 |
| Novex-1 | 18634 | 56125;56126;56127 | chr2:178563412;178563411;178563410 | chr2:179428139;179428138;179428137 |
| Novex-2 | 18701 | 56326;56327;56328 | chr2:178563412;178563411;178563410 | chr2:179428139;179428138;179428137 |
| 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 | None | None | 1.0 | D | 0.891 | 0.682 | 0.851436875892 | gnomAD-4.0.0 | 4.10556E-06 | None | None | None | None | N | None | 2.98811E-05 | 0 | None | 0 | 2.52436E-05 | None | 0 | 0 | 3.59794E-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 | 0.7744 | likely_pathogenic | 0.7437 | pathogenic | -2.176 | Highly Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.529496433 | None | None | N |
| P/C | 0.9751 | likely_pathogenic | 0.9696 | pathogenic | -2.168 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/D | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -3.354 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| P/E | 0.998 | likely_pathogenic | 0.9982 | pathogenic | -3.115 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/F | 0.9986 | likely_pathogenic | 0.9984 | pathogenic | -1.071 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| P/G | 0.9916 | likely_pathogenic | 0.9919 | pathogenic | -2.686 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/H | 0.997 | likely_pathogenic | 0.9974 | pathogenic | -2.449 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/I | 0.9428 | likely_pathogenic | 0.9185 | pathogenic | -0.726 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| P/K | 0.9987 | likely_pathogenic | 0.9989 | pathogenic | -1.753 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| P/L | 0.8846 | likely_pathogenic | 0.8654 | pathogenic | -0.726 | Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.56395697 | None | None | N |
| P/M | 0.9859 | likely_pathogenic | 0.9838 | pathogenic | -1.217 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| P/N | 0.9986 | likely_pathogenic | 0.9989 | pathogenic | -2.272 | Highly Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| P/Q | 0.9956 | likely_pathogenic | 0.996 | pathogenic | -2.046 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.577087702 | None | None | N |
| P/R | 0.995 | likely_pathogenic | 0.9955 | pathogenic | -1.69 | Destabilizing | 1.0 | D | 0.904 | deleterious | D | 0.576580723 | None | None | N |
| P/S | 0.9745 | likely_pathogenic | 0.9749 | pathogenic | -2.751 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.565477907 | None | None | N |
| P/T | 0.9398 | likely_pathogenic | 0.9449 | pathogenic | -2.38 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | D | 0.564717438 | None | None | N |
| P/V | 0.8385 | likely_pathogenic | 0.7824 | pathogenic | -1.188 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.648 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/Y | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -1.355 | Destabilizing | 1.0 | D | 0.9 | 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.