Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16824 | 50695;50696;50697 | chr2:178611839;178611838;178611837 | chr2:179476566;179476565;179476564 |
| N2AB | 15183 | 45772;45773;45774 | chr2:178611839;178611838;178611837 | chr2:179476566;179476565;179476564 |
| N2A | 14256 | 42991;42992;42993 | chr2:178611839;178611838;178611837 | chr2:179476566;179476565;179476564 |
| N2B | 7759 | 23500;23501;23502 | chr2:178611839;178611838;178611837 | chr2:179476566;179476565;179476564 |
| Novex-1 | 7884 | 23875;23876;23877 | chr2:178611839;178611838;178611837 | chr2:179476566;179476565;179476564 |
| Novex-2 | 7951 | 24076;24077;24078 | chr2:178611839;178611838;178611837 | chr2:179476566;179476565;179476564 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs1460335685  |
-1.301 | 0.999 | D | 0.683 | 0.552 | 0.529460334844 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| F/L | rs1460335685 |
-1.301 | 0.999 | D | 0.683 | 0.552 | 0.529460334844 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| F/L | rs1460335685 |
-1.301 | 0.999 | D | 0.683 | 0.552 | 0.529460334844 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -2.625 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| F/C | 0.9956 | likely_pathogenic | 0.9944 | pathogenic | -1.961 | Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.740207625 | None | None | N |
| F/D | 1.0 | likely_pathogenic | 0.9999 | pathogenic | -3.676 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| F/E | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.444 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| F/G | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -3.069 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| F/H | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -2.091 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| F/I | 0.9709 | likely_pathogenic | 0.9634 | pathogenic | -1.162 | Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.557157642 | None | None | N |
| F/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.665 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| F/L | 0.9957 | likely_pathogenic | 0.9952 | pathogenic | -1.162 | Destabilizing | 0.999 | D | 0.683 | prob.neutral | D | 0.586760254 | None | None | N |
| F/M | 0.9892 | likely_pathogenic | 0.9874 | pathogenic | -0.897 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| F/N | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.391 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| F/P | 1.0 | likely_pathogenic | 1.0 | pathogenic | -1.664 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| F/Q | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.18 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| F/R | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -2.438 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| F/S | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -3.826 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.740207625 | None | None | N |
| F/T | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -3.469 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| F/V | 0.9811 | likely_pathogenic | 0.9755 | pathogenic | -1.664 | Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.59737043 | None | None | N |
| F/W | 0.9685 | likely_pathogenic | 0.9713 | pathogenic | -0.675 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| F/Y | 0.8385 | likely_pathogenic | 0.84 | pathogenic | -1.037 | Destabilizing | 0.999 | D | 0.608 | neutral | D | 0.565319908 | 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.