Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33760 | 101503;101504;101505 | chr2:178535337;178535336;178535335 | chr2:179400064;179400063;179400062 |
| N2AB | 32119 | 96580;96581;96582 | chr2:178535337;178535336;178535335 | chr2:179400064;179400063;179400062 |
| N2A | 31192 | 93799;93800;93801 | chr2:178535337;178535336;178535335 | chr2:179400064;179400063;179400062 |
| N2B | 24695 | 74308;74309;74310 | chr2:178535337;178535336;178535335 | chr2:179400064;179400063;179400062 |
| Novex-1 | 24820 | 74683;74684;74685 | chr2:178535337;178535336;178535335 | chr2:179400064;179400063;179400062 |
| Novex-2 | 24887 | 74884;74885;74886 | chr2:178535337;178535336;178535335 | chr2:179400064;179400063;179400062 |
| 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/I | None | None | 1.0 | N | 0.773 | 0.555 | 0.594169782683 | gnomAD-4.0.0 | 1.59109E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 0 |
| F/L | None | None | 0.999 | N | 0.689 | 0.549 | 0.696484460985 | gnomAD-4.0.0 | 6.84183E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.87413E-05 | 0 | 0 | 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 | 0.9992 | likely_pathogenic | 0.9995 | pathogenic | -2.714 | Highly Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| F/C | 0.9911 | likely_pathogenic | 0.9944 | pathogenic | -1.519 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.551910696 | None | None | N |
| F/D | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -3.554 | Highly Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| F/E | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -3.299 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| F/G | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -3.194 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| F/H | 0.9978 | likely_pathogenic | 0.9986 | pathogenic | -2.237 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| F/I | 0.9698 | likely_pathogenic | 0.9769 | pathogenic | -1.126 | Destabilizing | 1.0 | D | 0.773 | deleterious | N | 0.496958686 | None | None | N |
| F/K | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -2.219 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| F/L | 0.9975 | likely_pathogenic | 0.9978 | pathogenic | -1.126 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | N | 0.497403212 | None | None | N |
| F/M | 0.9903 | likely_pathogenic | 0.9921 | pathogenic | -0.831 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| F/N | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -2.941 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| F/P | 1.0 | likely_pathogenic | 1.0 | pathogenic | -1.673 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| F/Q | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -2.713 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| F/R | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -2.09 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| F/S | 0.9993 | likely_pathogenic | 0.9996 | pathogenic | -3.386 | Highly Destabilizing | 1.0 | D | 0.818 | deleterious | D | 0.551910696 | None | None | N |
| F/T | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -3.001 | Highly Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| F/V | 0.9759 | likely_pathogenic | 0.9821 | pathogenic | -1.673 | Destabilizing | 1.0 | D | 0.755 | deleterious | N | 0.500233461 | None | None | N |
| F/W | 0.9467 | likely_pathogenic | 0.9596 | pathogenic | -0.432 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| F/Y | 0.716 | likely_pathogenic | 0.7844 | pathogenic | -0.872 | Destabilizing | 0.999 | D | 0.595 | neutral | N | 0.504065938 | 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.