Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16772 | 50539;50540;50541 | chr2:178612097;178612096;178612095 | chr2:179476824;179476823;179476822 |
| N2AB | 15131 | 45616;45617;45618 | chr2:178612097;178612096;178612095 | chr2:179476824;179476823;179476822 |
| N2A | 14204 | 42835;42836;42837 | chr2:178612097;178612096;178612095 | chr2:179476824;179476823;179476822 |
| N2B | 7707 | 23344;23345;23346 | chr2:178612097;178612096;178612095 | chr2:179476824;179476823;179476822 |
| Novex-1 | 7832 | 23719;23720;23721 | chr2:178612097;178612096;178612095 | chr2:179476824;179476823;179476822 |
| Novex-2 | 7899 | 23920;23921;23922 | chr2:178612097;178612096;178612095 | chr2:179476824;179476823;179476822 |
| 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 | rs1433307898  |
-1.994 | 1.0 | D | 0.852 | 0.61 | 0.529561333529 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.59631E-04 | None | 0 | None | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9985 | likely_pathogenic | 0.9986 | pathogenic | -3.784 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| W/C | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -2.214 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | D | 0.785541811 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -4.086 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| W/E | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.991 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| W/F | 0.8817 | likely_pathogenic | 0.8769 | pathogenic | -2.467 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| W/G | 0.9897 | likely_pathogenic | 0.9902 | pathogenic | -3.988 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | D | 0.785541811 | None | None | N |
| W/H | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -2.887 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| W/I | 0.9961 | likely_pathogenic | 0.9961 | pathogenic | -2.956 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.037 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| W/L | 0.9905 | likely_pathogenic | 0.9912 | pathogenic | -2.956 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | D | 0.787441638 | None | None | N |
| W/M | 0.9977 | likely_pathogenic | 0.9976 | pathogenic | -2.339 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| W/N | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.677 | Highly Destabilizing | 1.0 | D | 0.922 | deleterious | None | None | None | None | N |
| W/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.264 | Highly Destabilizing | 1.0 | D | 0.924 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.589 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| W/R | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.562 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | D | 0.785541811 | None | None | N |
| W/S | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -3.796 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | D | 0.785541811 | None | None | N |
| W/T | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -3.636 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| W/V | 0.9967 | likely_pathogenic | 0.9967 | pathogenic | -3.264 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| W/Y | 0.9766 | likely_pathogenic | 0.9765 | pathogenic | -2.396 | Highly Destabilizing | 1.0 | D | 0.854 | 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.