Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21313 | 64162;64163;64164 | chr2:178587274;178587273;178587272 | chr2:179452001;179452000;179451999 |
| N2AB | 19672 | 59239;59240;59241 | chr2:178587274;178587273;178587272 | chr2:179452001;179452000;179451999 |
| N2A | 18745 | 56458;56459;56460 | chr2:178587274;178587273;178587272 | chr2:179452001;179452000;179451999 |
| N2B | 12248 | 36967;36968;36969 | chr2:178587274;178587273;178587272 | chr2:179452001;179452000;179451999 |
| Novex-1 | 12373 | 37342;37343;37344 | chr2:178587274;178587273;178587272 | chr2:179452001;179452000;179451999 |
| Novex-2 | 12440 | 37543;37544;37545 | chr2:178587274;178587273;178587272 | chr2:179452001;179452000;179451999 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | None | None | 1.0 | N | 0.744 | 0.617 | 0.775483356081 | gnomAD-4.0.0 | 1.59251E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86022E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9867 | likely_pathogenic | 0.9884 | pathogenic | -3.215 | Highly Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| W/C | 0.991 | likely_pathogenic | 0.993 | pathogenic | -1.488 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | N | 0.515378882 | None | None | N |
| W/D | 0.9983 | likely_pathogenic | 0.9985 | pathogenic | -1.67 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| W/E | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -1.605 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| W/F | 0.4701 | ambiguous | 0.4592 | ambiguous | -2.086 | Highly Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| W/G | 0.9715 | likely_pathogenic | 0.9754 | pathogenic | -3.404 | Highly Destabilizing | 1.0 | D | 0.669 | neutral | N | 0.514364924 | None | None | N |
| W/H | 0.9853 | likely_pathogenic | 0.9865 | pathogenic | -1.626 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| W/I | 0.9848 | likely_pathogenic | 0.9858 | pathogenic | -2.53 | Highly Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| W/K | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -1.613 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| W/L | 0.9599 | likely_pathogenic | 0.9605 | pathogenic | -2.53 | Highly Destabilizing | 1.0 | D | 0.669 | neutral | N | 0.520352405 | None | None | N |
| W/M | 0.9883 | likely_pathogenic | 0.9907 | pathogenic | -1.982 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | None | None | None | None | N |
| W/N | 0.9959 | likely_pathogenic | 0.9964 | pathogenic | -1.843 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| W/P | 0.9952 | likely_pathogenic | 0.9955 | pathogenic | -2.775 | Highly Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9986 | likely_pathogenic | 0.9988 | pathogenic | -1.919 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| W/R | 0.9968 | likely_pathogenic | 0.9971 | pathogenic | -0.907 | Destabilizing | 1.0 | D | 0.744 | deleterious | N | 0.517834418 | None | None | N |
| W/S | 0.9751 | likely_pathogenic | 0.9778 | pathogenic | -2.377 | Highly Destabilizing | 1.0 | D | 0.751 | deleterious | D | 0.530948242 | None | None | N |
| W/T | 0.9916 | likely_pathogenic | 0.9925 | pathogenic | -2.267 | Highly Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| W/V | 0.9769 | likely_pathogenic | 0.9783 | pathogenic | -2.775 | Highly Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| W/Y | 0.6276 | likely_pathogenic | 0.62 | pathogenic | -1.818 | Destabilizing | 1.0 | D | 0.592 | neutral | 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.