Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22584 | 67975;67976;67977 | chr2:178579280;178579279;178579278 | chr2:179444007;179444006;179444005 |
| N2AB | 20943 | 63052;63053;63054 | chr2:178579280;178579279;178579278 | chr2:179444007;179444006;179444005 |
| N2A | 20016 | 60271;60272;60273 | chr2:178579280;178579279;178579278 | chr2:179444007;179444006;179444005 |
| N2B | 13519 | 40780;40781;40782 | chr2:178579280;178579279;178579278 | chr2:179444007;179444006;179444005 |
| Novex-1 | 13644 | 41155;41156;41157 | chr2:178579280;178579279;178579278 | chr2:179444007;179444006;179444005 |
| Novex-2 | 13711 | 41356;41357;41358 | chr2:178579280;178579279;178579278 | chr2:179444007;179444006;179444005 |
| 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/C | rs750330303  |
-1.879 | 1.0 | D | 0.797 | 0.891 | 0.920170856376 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| W/C | rs750330303 |
-1.879 | 1.0 | D | 0.797 | 0.891 | 0.920170856376 | gnomAD-4.0.0 | 2.05326E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69892E-06 | 0 | 0 |
| W/G | rs762387858 |
-2.86 | 1.0 | D | 0.815 | 0.946 | 0.92633486712 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.56E-05 | 0 |
| W/G | rs762387858 |
-2.86 | 1.0 | D | 0.815 | 0.946 | 0.92633486712 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| W/G | rs762387858 |
-2.86 | 1.0 | D | 0.815 | 0.946 | 0.92633486712 | gnomAD-4.0.0 | 5.57914E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.63017E-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 | 0.9969 | likely_pathogenic | 0.9964 | pathogenic | -2.626 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| W/C | 0.9973 | likely_pathogenic | 0.997 | pathogenic | -1.857 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.685653103 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.718 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| W/E | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -2.574 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| W/F | 0.6744 | likely_pathogenic | 0.6529 | pathogenic | -1.495 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| W/G | 0.9902 | likely_pathogenic | 0.9889 | pathogenic | -2.897 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.685451299 | None | None | N |
| W/H | 0.9979 | likely_pathogenic | 0.9978 | pathogenic | -2.052 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| W/I | 0.9707 | likely_pathogenic | 0.9635 | pathogenic | -1.623 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| W/K | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.337 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| W/L | 0.9247 | likely_pathogenic | 0.9132 | pathogenic | -1.623 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.669431938 | None | None | N |
| W/M | 0.988 | likely_pathogenic | 0.9863 | pathogenic | -1.402 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| W/N | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.049 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| W/P | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -1.985 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| W/Q | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -2.766 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| W/R | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -2.304 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.685653103 | None | None | N |
| W/S | 0.997 | likely_pathogenic | 0.9966 | pathogenic | -3.279 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.685653103 | None | None | N |
| W/T | 0.9978 | likely_pathogenic | 0.9974 | pathogenic | -3.061 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| W/V | 0.9777 | likely_pathogenic | 0.9741 | pathogenic | -1.985 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| W/Y | 0.9513 | likely_pathogenic | 0.9418 | pathogenic | -1.333 | Destabilizing | 1.0 | D | 0.847 | 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.