Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21792 | 65599;65600;65601 | chr2:178583808;178583807;178583806 | chr2:179448535;179448534;179448533 |
| N2AB | 20151 | 60676;60677;60678 | chr2:178583808;178583807;178583806 | chr2:179448535;179448534;179448533 |
| N2A | 19224 | 57895;57896;57897 | chr2:178583808;178583807;178583806 | chr2:179448535;179448534;179448533 |
| N2B | 12727 | 38404;38405;38406 | chr2:178583808;178583807;178583806 | chr2:179448535;179448534;179448533 |
| Novex-1 | 12852 | 38779;38780;38781 | chr2:178583808;178583807;178583806 | chr2:179448535;179448534;179448533 |
| Novex-2 | 12919 | 38980;38981;38982 | chr2:178583808;178583807;178583806 | chr2:179448535;179448534;179448533 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | None | None | 1.0 | D | 0.848 | 0.805 | 0.884996619294 | gnomAD-4.0.0 | 7.20193E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.87501E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9977 | likely_pathogenic | 0.9958 | pathogenic | -3.844 | Highly Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| Y/C | 0.9426 | likely_pathogenic | 0.9001 | pathogenic | -1.961 | Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.64327959 | None | None | N |
| Y/D | 0.9961 | likely_pathogenic | 0.9946 | pathogenic | -3.854 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | D | 0.643683199 | None | None | N |
| Y/E | 0.9994 | likely_pathogenic | 0.999 | pathogenic | -3.657 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| Y/F | 0.4015 | ambiguous | 0.3287 | benign | -1.763 | Destabilizing | 0.999 | D | 0.64 | neutral | D | 0.568029677 | None | None | N |
| Y/G | 0.9927 | likely_pathogenic | 0.9884 | pathogenic | -4.197 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| Y/H | 0.9857 | likely_pathogenic | 0.9762 | pathogenic | -2.895 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | D | 0.64327959 | None | None | N |
| Y/I | 0.9769 | likely_pathogenic | 0.9667 | pathogenic | -2.623 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| Y/K | 0.9992 | likely_pathogenic | 0.9987 | pathogenic | -2.665 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| Y/L | 0.9611 | likely_pathogenic | 0.9464 | pathogenic | -2.623 | Highly Destabilizing | 0.999 | D | 0.727 | prob.delet. | None | None | None | None | N |
| Y/M | 0.9922 | likely_pathogenic | 0.9877 | pathogenic | -2.219 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| Y/N | 0.9776 | likely_pathogenic | 0.9691 | pathogenic | -3.342 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | D | 0.643683199 | None | None | N |
| Y/P | 0.9991 | likely_pathogenic | 0.9986 | pathogenic | -3.051 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| Y/Q | 0.9991 | likely_pathogenic | 0.9985 | pathogenic | -3.123 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| Y/R | 0.9969 | likely_pathogenic | 0.9955 | pathogenic | -2.353 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| Y/S | 0.9864 | likely_pathogenic | 0.9783 | pathogenic | -3.622 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.643683199 | None | None | N |
| Y/T | 0.9956 | likely_pathogenic | 0.9928 | pathogenic | -3.324 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| Y/V | 0.9631 | likely_pathogenic | 0.9453 | pathogenic | -3.051 | Highly Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| Y/W | 0.8734 | likely_pathogenic | 0.8327 | pathogenic | -0.974 | Destabilizing | 1.0 | D | 0.83 | 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.