Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33075 | 99448;99449;99450 | chr2:178538606;178538605;178538604 | chr2:179403333;179403332;179403331 |
| N2AB | 31434 | 94525;94526;94527 | chr2:178538606;178538605;178538604 | chr2:179403333;179403332;179403331 |
| N2A | 30507 | 91744;91745;91746 | chr2:178538606;178538605;178538604 | chr2:179403333;179403332;179403331 |
| N2B | 24010 | 72253;72254;72255 | chr2:178538606;178538605;178538604 | chr2:179403333;179403332;179403331 |
| Novex-1 | 24135 | 72628;72629;72630 | chr2:178538606;178538605;178538604 | chr2:179403333;179403332;179403331 |
| Novex-2 | 24202 | 72829;72830;72831 | chr2:178538606;178538605;178538604 | chr2:179403333;179403332;179403331 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/V | rs373447560  |
-0.689 | 1.0 | D | 0.715 | 0.617 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 1.65782E-04 |
| A/V | rs373447560 |
-0.689 | 1.0 | D | 0.715 | 0.617 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| A/V | rs373447560 |
-0.689 | 1.0 | D | 0.715 | 0.617 | None | gnomAD-4.0.0 | 8.67659E-06 | None | None | None | None | N | None | 1.33536E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.10195E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8202 | likely_pathogenic | 0.8551 | pathogenic | -1.242 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| A/D | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -2.36 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.66288322 | None | None | N |
| A/E | 0.9975 | likely_pathogenic | 0.9971 | pathogenic | -2.174 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| A/F | 0.9923 | likely_pathogenic | 0.9929 | pathogenic | -0.721 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| A/G | 0.619 | likely_pathogenic | 0.639 | pathogenic | -1.729 | Destabilizing | 1.0 | D | 0.638 | neutral | D | 0.612978539 | None | None | N |
| A/H | 0.9984 | likely_pathogenic | 0.9984 | pathogenic | -2.052 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| A/I | 0.9538 | likely_pathogenic | 0.9634 | pathogenic | -0.004 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| A/K | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.339 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| A/L | 0.899 | likely_pathogenic | 0.91 | pathogenic | -0.004 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| A/M | 0.9668 | likely_pathogenic | 0.9728 | pathogenic | -0.268 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| A/N | 0.9972 | likely_pathogenic | 0.9975 | pathogenic | -1.552 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| A/P | 0.9773 | likely_pathogenic | 0.9805 | pathogenic | -0.38 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.636739696 | None | None | N |
| A/Q | 0.9944 | likely_pathogenic | 0.9938 | pathogenic | -1.386 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| A/R | 0.9965 | likely_pathogenic | 0.9957 | pathogenic | -1.375 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| A/S | 0.4582 | ambiguous | 0.4762 | ambiguous | -1.983 | Destabilizing | 1.0 | D | 0.627 | neutral | D | 0.590085319 | None | None | N |
| A/T | 0.7803 | likely_pathogenic | 0.8162 | pathogenic | -1.678 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.636336087 | None | None | N |
| A/V | 0.7877 | likely_pathogenic | 0.8212 | pathogenic | -0.38 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | D | 0.623890277 | None | None | N |
| A/W | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -1.458 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| A/Y | 0.9976 | likely_pathogenic | 0.9978 | pathogenic | -0.946 | Destabilizing | 1.0 | D | 0.907 | 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.