Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14833 | 44722;44723;44724 | chr2:178625324;178625323;178625322 | chr2:179490051;179490050;179490049 |
| N2AB | 13192 | 39799;39800;39801 | chr2:178625324;178625323;178625322 | chr2:179490051;179490050;179490049 |
| N2A | 12265 | 37018;37019;37020 | chr2:178625324;178625323;178625322 | chr2:179490051;179490050;179490049 |
| N2B | 5768 | 17527;17528;17529 | chr2:178625324;178625323;178625322 | chr2:179490051;179490050;179490049 |
| Novex-1 | 5893 | 17902;17903;17904 | chr2:178625324;178625323;178625322 | chr2:179490051;179490050;179490049 |
| Novex-2 | 5960 | 18103;18104;18105 | chr2:178625324;178625323;178625322 | chr2:179490051;179490050;179490049 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs373168798  |
-0.313 | 0.997 | N | 0.677 | 0.228 | None | gnomAD-2.1.1 | 4.73E-05 | None | None | None | None | N | None | 5.06971E-04 | 2.94E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs373168798 |
-0.313 | 0.997 | N | 0.677 | 0.228 | None | gnomAD-3.1.2 | 2.0409E-04 | None | None | None | None | N | None | 7.24428E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.79386E-04 |
| V/I | rs373168798 |
-0.313 | 0.997 | N | 0.677 | 0.228 | None | gnomAD-4.0.0 | 3.79834E-05 | None | None | None | None | N | None | 7.81061E-04 | 1.70097E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.21812E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.8719 | likely_pathogenic | 0.8558 | pathogenic | -2.267 | Highly Destabilizing | 0.999 | D | 0.757 | deleterious | D | 0.541056442 | None | None | N |
| V/C | 0.9587 | likely_pathogenic | 0.9533 | pathogenic | -1.788 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| V/D | 0.9939 | likely_pathogenic | 0.9944 | pathogenic | -3.216 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | D | 0.541056442 | None | None | N |
| V/E | 0.9853 | likely_pathogenic | 0.9863 | pathogenic | -2.882 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| V/F | 0.4687 | ambiguous | 0.4162 | ambiguous | -1.33 | Destabilizing | 1.0 | D | 0.852 | deleterious | N | 0.444639724 | None | None | N |
| V/G | 0.8746 | likely_pathogenic | 0.8624 | pathogenic | -2.91 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.541056442 | None | None | N |
| V/H | 0.9939 | likely_pathogenic | 0.9932 | pathogenic | -2.841 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| V/I | 0.0909 | likely_benign | 0.0939 | benign | -0.399 | Destabilizing | 0.997 | D | 0.677 | prob.neutral | N | 0.438551445 | None | None | N |
| V/K | 0.9896 | likely_pathogenic | 0.9893 | pathogenic | -1.901 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| V/L | 0.4389 | ambiguous | 0.4227 | ambiguous | -0.399 | Destabilizing | 0.997 | D | 0.757 | deleterious | D | 0.538205935 | None | None | N |
| V/M | 0.502 | ambiguous | 0.497 | ambiguous | -0.635 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| V/N | 0.9823 | likely_pathogenic | 0.982 | pathogenic | -2.629 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| V/P | 0.9915 | likely_pathogenic | 0.9899 | pathogenic | -1.002 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| V/Q | 0.9879 | likely_pathogenic | 0.9884 | pathogenic | -2.239 | Highly Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| V/R | 0.981 | likely_pathogenic | 0.9797 | pathogenic | -2.051 | Highly Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | N |
| V/S | 0.968 | likely_pathogenic | 0.9626 | pathogenic | -3.184 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| V/T | 0.9304 | likely_pathogenic | 0.9169 | pathogenic | -2.672 | Highly Destabilizing | 0.999 | D | 0.752 | deleterious | None | None | None | None | N |
| V/W | 0.9847 | likely_pathogenic | 0.9812 | pathogenic | -1.901 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| V/Y | 0.8899 | likely_pathogenic | 0.8415 | pathogenic | -1.536 | Destabilizing | 1.0 | D | 0.845 | 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.