Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9934 | 30025;30026;30027 | chr2:178704672;178704671;178704670 | chr2:179569399;179569398;179569397 |
| N2AB | 9617 | 29074;29075;29076 | chr2:178704672;178704671;178704670 | chr2:179569399;179569398;179569397 |
| N2A | 8690 | 26293;26294;26295 | chr2:178704672;178704671;178704670 | chr2:179569399;179569398;179569397 |
| 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 | rs1046404085  |
None | 1.0 | None | 0.879 | 0.927 | 0.72990446813 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/C | rs1046404085 |
None | 1.0 | None | 0.879 | 0.927 | 0.72990446813 | gnomAD-4.0.0 | 6.57376E-06 | None | None | None | None | N | None | 2.41394E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/R | rs753005176 |
-2.25 | 1.0 | None | 0.901 | 0.957 | 0.954018241302 | gnomAD-2.1.1 | 4.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.05E-06 | 0 |
| W/R | rs753005176 |
-2.25 | 1.0 | None | 0.901 | 0.957 | 0.954018241302 | gnomAD-4.0.0 | 4.11023E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.50088E-06 | 0 | 1.65843E-05 |
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 | 0.9984 | likely_pathogenic | 0.9976 | pathogenic | -2.543 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| W/C | 0.9991 | likely_pathogenic | 0.9986 | pathogenic | -1.578 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| W/D | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.224 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| W/E | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.091 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| W/F | 0.7992 | likely_pathogenic | 0.7881 | pathogenic | -1.588 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| W/G | 0.9955 | likely_pathogenic | 0.9931 | pathogenic | -2.798 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| W/H | 0.9989 | likely_pathogenic | 0.9985 | pathogenic | -2.174 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| W/I | 0.9934 | likely_pathogenic | 0.9905 | pathogenic | -1.585 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.504 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| W/L | 0.9799 | likely_pathogenic | 0.976 | pathogenic | -1.585 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| W/M | 0.9976 | likely_pathogenic | 0.9968 | pathogenic | -1.19 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| W/N | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -3.313 | Highly Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | N |
| W/P | 0.9996 | likely_pathogenic | 0.9992 | pathogenic | -1.932 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.012 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| W/R | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -2.557 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| W/S | 0.9985 | likely_pathogenic | 0.9977 | pathogenic | -3.372 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| W/T | 0.9988 | likely_pathogenic | 0.998 | pathogenic | -3.159 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| W/V | 0.9947 | likely_pathogenic | 0.992 | pathogenic | -1.932 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| W/Y | 0.9643 | likely_pathogenic | 0.9596 | pathogenic | -1.473 | Destabilizing | 1.0 | D | 0.772 | 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.