Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16955 | 51088;51089;51090 | chr2:178611266;178611265;178611264 | chr2:179475993;179475992;179475991 |
| N2AB | 15314 | 46165;46166;46167 | chr2:178611266;178611265;178611264 | chr2:179475993;179475992;179475991 |
| N2A | 14387 | 43384;43385;43386 | chr2:178611266;178611265;178611264 | chr2:179475993;179475992;179475991 |
| N2B | 7890 | 23893;23894;23895 | chr2:178611266;178611265;178611264 | chr2:179475993;179475992;179475991 |
| Novex-1 | 8015 | 24268;24269;24270 | chr2:178611266;178611265;178611264 | chr2:179475993;179475992;179475991 |
| Novex-2 | 8082 | 24469;24470;24471 | chr2:178611266;178611265;178611264 | chr2:179475993;179475992;179475991 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | None | None | 1.0 | D | 0.834 | 0.766 | 0.662692292153 | gnomAD-4.0.0 | 6.85007E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99973E-07 | 0 | 0 |
| P/T | rs757101775  |
-1.855 | 1.0 | D | 0.893 | 0.77 | 0.694831530802 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.3E-05 | None | 0 | 0 | 0 |
| P/T | rs757101775 |
-1.855 | 1.0 | D | 0.893 | 0.77 | 0.694831530802 | gnomAD-4.0.0 | 1.37001E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99973E-07 | 1.16271E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.7409 | likely_pathogenic | 0.7586 | pathogenic | -1.801 | Destabilizing | 1.0 | D | 0.834 | deleterious | D | 0.723046601 | None | None | N |
| P/C | 0.9884 | likely_pathogenic | 0.9888 | pathogenic | -1.413 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/D | 0.9985 | likely_pathogenic | 0.9979 | pathogenic | -1.781 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/E | 0.9969 | likely_pathogenic | 0.9955 | pathogenic | -1.751 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| P/F | 0.9989 | likely_pathogenic | 0.9987 | pathogenic | -1.441 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/G | 0.9827 | likely_pathogenic | 0.9796 | pathogenic | -2.162 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/H | 0.9974 | likely_pathogenic | 0.9965 | pathogenic | -1.678 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| P/I | 0.9686 | likely_pathogenic | 0.9709 | pathogenic | -0.886 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/K | 0.9985 | likely_pathogenic | 0.9977 | pathogenic | -1.417 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| P/L | 0.9321 | likely_pathogenic | 0.9277 | pathogenic | -0.886 | Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.722841798 | None | None | N |
| P/M | 0.9841 | likely_pathogenic | 0.9829 | pathogenic | -0.743 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/N | 0.9973 | likely_pathogenic | 0.9966 | pathogenic | -1.29 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/Q | 0.9953 | likely_pathogenic | 0.9934 | pathogenic | -1.448 | Destabilizing | 1.0 | D | 0.888 | deleterious | D | 0.722345376 | None | None | N |
| P/R | 0.9962 | likely_pathogenic | 0.9945 | pathogenic | -0.924 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.722345376 | None | None | N |
| P/S | 0.9794 | likely_pathogenic | 0.9778 | pathogenic | -1.874 | Destabilizing | 1.0 | D | 0.898 | deleterious | D | 0.723126143 | None | None | N |
| P/T | 0.9571 | likely_pathogenic | 0.9576 | pathogenic | -1.726 | Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.722841798 | None | None | N |
| P/V | 0.9104 | likely_pathogenic | 0.9142 | pathogenic | -1.158 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| P/W | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.644 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| P/Y | 0.999 | likely_pathogenic | 0.9987 | pathogenic | -1.347 | Destabilizing | 1.0 | D | 0.887 | 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.