Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23748 | 71467;71468;71469 | chr2:178574890;178574889;178574888 | chr2:179439617;179439616;179439615 |
| N2AB | 22107 | 66544;66545;66546 | chr2:178574890;178574889;178574888 | chr2:179439617;179439616;179439615 |
| N2A | 21180 | 63763;63764;63765 | chr2:178574890;178574889;178574888 | chr2:179439617;179439616;179439615 |
| N2B | 14683 | 44272;44273;44274 | chr2:178574890;178574889;178574888 | chr2:179439617;179439616;179439615 |
| Novex-1 | 14808 | 44647;44648;44649 | chr2:178574890;178574889;178574888 | chr2:179439617;179439616;179439615 |
| Novex-2 | 14875 | 44848;44849;44850 | chr2:178574890;178574889;178574888 | chr2:179439617;179439616;179439615 |
| 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/R | rs1319154983  |
-2.158 | 1.0 | D | 0.92 | 0.896 | 0.878526340876 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.01E-06 | 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 | 0.9987 | likely_pathogenic | 0.9988 | pathogenic | -3.437 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| W/C | 0.9987 | likely_pathogenic | 0.9988 | pathogenic | -2.06 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.660606192 | None | None | N |
| W/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.874 | Highly Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| W/E | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.754 | Highly Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| W/F | 0.8691 | likely_pathogenic | 0.8788 | pathogenic | -2.187 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| W/G | 0.9947 | likely_pathogenic | 0.9946 | pathogenic | -3.684 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | D | 0.660606192 | None | None | N |
| W/H | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -2.776 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| W/I | 0.9965 | likely_pathogenic | 0.9971 | pathogenic | -2.477 | Highly Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.827 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| W/L | 0.9922 | likely_pathogenic | 0.9935 | pathogenic | -2.477 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | D | 0.62712448 | None | None | N |
| W/M | 0.9977 | likely_pathogenic | 0.998 | pathogenic | -1.974 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| W/N | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.557 | Highly Destabilizing | 1.0 | D | 0.929 | deleterious | None | None | None | None | N |
| W/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.83 | Highly Destabilizing | 1.0 | D | 0.931 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.383 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| W/R | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.539 | Highly Destabilizing | 1.0 | D | 0.92 | deleterious | D | 0.660606192 | None | None | N |
| W/S | 0.9981 | likely_pathogenic | 0.998 | pathogenic | -3.677 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.660606192 | None | None | N |
| W/T | 0.999 | likely_pathogenic | 0.999 | pathogenic | -3.478 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| W/V | 0.9963 | likely_pathogenic | 0.997 | pathogenic | -2.83 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| W/Y | 0.9829 | likely_pathogenic | 0.9839 | pathogenic | -2.076 | Highly 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.