Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30825 | 92698;92699;92700 | chr2:178549153;178549152;178549151 | chr2:179413880;179413879;179413878 |
| N2AB | 29184 | 87775;87776;87777 | chr2:178549153;178549152;178549151 | chr2:179413880;179413879;179413878 |
| N2A | 28257 | 84994;84995;84996 | chr2:178549153;178549152;178549151 | chr2:179413880;179413879;179413878 |
| N2B | 21760 | 65503;65504;65505 | chr2:178549153;178549152;178549151 | chr2:179413880;179413879;179413878 |
| Novex-1 | 21885 | 65878;65879;65880 | chr2:178549153;178549152;178549151 | chr2:179413880;179413879;179413878 |
| Novex-2 | 21952 | 66079;66080;66081 | chr2:178549153;178549152;178549151 | chr2:179413880;179413879;179413878 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | rs1321331072  |
-3.199 | 1.0 | D | 0.893 | 0.662 | 0.543342094247 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/S | rs1321331072 |
-3.199 | 1.0 | D | 0.893 | 0.662 | 0.543342094247 | gnomAD-4.0.0 | 4.77363E-06 | None | None | None | None | N | None | 0 | 6.86122E-05 | None | 0 | 0 | None | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.6069 | likely_pathogenic | 0.5888 | pathogenic | -2.162 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.537027624 | None | None | N |
| P/C | 0.9454 | likely_pathogenic | 0.9515 | pathogenic | -2.197 | Highly Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| P/D | 0.9985 | likely_pathogenic | 0.9978 | pathogenic | -3.312 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/E | 0.9951 | likely_pathogenic | 0.9933 | pathogenic | -3.131 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| P/F | 0.9972 | likely_pathogenic | 0.9965 | pathogenic | -1.263 | Destabilizing | 1.0 | D | 0.933 | deleterious | None | None | None | None | N |
| P/G | 0.9809 | likely_pathogenic | 0.9759 | pathogenic | -2.639 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| P/H | 0.9929 | likely_pathogenic | 0.9906 | pathogenic | -2.284 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.583631387 | None | None | N |
| P/I | 0.8982 | likely_pathogenic | 0.9028 | pathogenic | -0.836 | Destabilizing | 1.0 | D | 0.94 | deleterious | None | None | None | None | N |
| P/K | 0.9966 | likely_pathogenic | 0.9952 | pathogenic | -1.83 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| P/L | 0.814 | likely_pathogenic | 0.8072 | pathogenic | -0.836 | Destabilizing | 1.0 | D | 0.925 | deleterious | D | 0.571261124 | None | None | N |
| P/M | 0.9654 | likely_pathogenic | 0.9648 | pathogenic | -1.162 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| P/N | 0.9967 | likely_pathogenic | 0.9956 | pathogenic | -2.204 | Highly Destabilizing | 1.0 | D | 0.943 | deleterious | None | None | None | None | N |
| P/Q | 0.987 | likely_pathogenic | 0.9833 | pathogenic | -2.12 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| P/R | 0.9893 | likely_pathogenic | 0.9859 | pathogenic | -1.576 | Destabilizing | 1.0 | D | 0.943 | deleterious | D | 0.583377898 | None | None | N |
| P/S | 0.943 | likely_pathogenic | 0.9341 | pathogenic | -2.718 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.571768103 | None | None | N |
| P/T | 0.8662 | likely_pathogenic | 0.8585 | pathogenic | -2.41 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.583124408 | None | None | N |
| P/V | 0.7226 | likely_pathogenic | 0.7478 | pathogenic | -1.253 | Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| P/W | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -1.761 | Destabilizing | 1.0 | D | 0.918 | deleterious | None | None | None | None | N |
| P/Y | 0.9985 | likely_pathogenic | 0.998 | pathogenic | -1.446 | Destabilizing | 1.0 | D | 0.939 | 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.