Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8489 | 25690;25691;25692 | chr2:178717269;178717268;178717267 | chr2:179581996;179581995;179581994 |
| N2AB | 8172 | 24739;24740;24741 | chr2:178717269;178717268;178717267 | chr2:179581996;179581995;179581994 |
| N2A | 7245 | 21958;21959;21960 | chr2:178717269;178717268;178717267 | chr2:179581996;179581995;179581994 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | None | None | 1.0 | D | 0.81 | 0.909 | 0.764209397972 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| W/R | rs1478462166  |
-2.171 | 1.0 | D | 0.883 | 0.936 | 0.954361339775 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-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 | 0.9974 | likely_pathogenic | 0.9955 | pathogenic | -3.338 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| W/C | 0.9991 | likely_pathogenic | 0.9983 | pathogenic | -1.898 | Destabilizing | 1.0 | D | 0.81 | deleterious | D | 0.720013472 | None | None | N |
| W/D | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.47 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| W/E | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -3.371 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| W/F | 0.7383 | likely_pathogenic | 0.6248 | pathogenic | -2.097 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| W/G | 0.9933 | likely_pathogenic | 0.9887 | pathogenic | -3.558 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.719811667 | None | None | N |
| W/H | 0.9991 | likely_pathogenic | 0.9985 | pathogenic | -2.267 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| W/I | 0.991 | likely_pathogenic | 0.9854 | pathogenic | -2.479 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -2.557 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| W/L | 0.9728 | likely_pathogenic | 0.9588 | pathogenic | -2.479 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.694273556 | None | None | N |
| W/M | 0.9945 | likely_pathogenic | 0.9906 | pathogenic | -1.879 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| W/N | 0.9999 | likely_pathogenic | 0.9997 | pathogenic | -3.213 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| W/P | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -2.794 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9997 | pathogenic | -3.114 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| W/R | 0.9997 | likely_pathogenic | 0.9994 | pathogenic | -2.135 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.720013472 | None | None | N |
| W/S | 0.9979 | likely_pathogenic | 0.9961 | pathogenic | -3.396 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | D | 0.720013472 | None | None | N |
| W/T | 0.9983 | likely_pathogenic | 0.9971 | pathogenic | -3.234 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| W/V | 0.9888 | likely_pathogenic | 0.9818 | pathogenic | -2.794 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| W/Y | 0.9681 | likely_pathogenic | 0.9487 | pathogenic | -1.978 | Destabilizing | 1.0 | D | 0.791 | 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.