Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20208 | 60847;60848;60849 | chr2:178591103;178591102;178591101 | chr2:179455830;179455829;179455828 |
| N2AB | 18567 | 55924;55925;55926 | chr2:178591103;178591102;178591101 | chr2:179455830;179455829;179455828 |
| N2A | 17640 | 53143;53144;53145 | chr2:178591103;178591102;178591101 | chr2:179455830;179455829;179455828 |
| N2B | 11143 | 33652;33653;33654 | chr2:178591103;178591102;178591101 | chr2:179455830;179455829;179455828 |
| Novex-1 | 11268 | 34027;34028;34029 | chr2:178591103;178591102;178591101 | chr2:179455830;179455829;179455828 |
| Novex-2 | 11335 | 34228;34229;34230 | chr2:178591103;178591102;178591101 | chr2:179455830;179455829;179455828 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs752768925  |
-2.747 | 1.0 | N | 0.707 | 0.414 | 0.731997862569 | gnomAD-2.1.1 | 2.15E-05 | None | None | None | None | N | None | 4.14E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.92E-05 | 0 |
| I/T | rs752768925 |
-2.747 | 1.0 | N | 0.707 | 0.414 | 0.731997862569 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| I/T | rs752768925 |
-2.747 | 1.0 | N | 0.707 | 0.414 | 0.731997862569 | gnomAD-4.0.0 | 3.90537E-05 | None | None | None | None | N | None | 1.33572E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 5.17151E-05 | 0 | 1.60138E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.5559 | ambiguous | 0.6107 | pathogenic | -2.543 | Highly Destabilizing | 0.999 | D | 0.549 | neutral | None | None | None | None | N |
| I/C | 0.8029 | likely_pathogenic | 0.8024 | pathogenic | -2.032 | Highly Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| I/D | 0.9414 | likely_pathogenic | 0.9575 | pathogenic | -2.629 | Highly Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| I/E | 0.8578 | likely_pathogenic | 0.8844 | pathogenic | -2.51 | Highly Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| I/F | 0.3287 | likely_benign | 0.3835 | ambiguous | -1.65 | Destabilizing | 1.0 | D | 0.752 | deleterious | N | 0.49877832 | None | None | N |
| I/G | 0.9206 | likely_pathogenic | 0.9337 | pathogenic | -2.985 | Highly Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| I/H | 0.7036 | likely_pathogenic | 0.7527 | pathogenic | -2.129 | Highly Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| I/K | 0.6664 | likely_pathogenic | 0.7086 | pathogenic | -1.913 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| I/L | 0.2419 | likely_benign | 0.2472 | benign | -1.313 | Destabilizing | 0.993 | D | 0.395 | neutral | N | 0.513264983 | None | None | N |
| I/M | 0.182 | likely_benign | 0.2038 | benign | -1.279 | Destabilizing | 1.0 | D | 0.76 | deleterious | N | 0.481902169 | None | None | N |
| I/N | 0.6426 | likely_pathogenic | 0.6892 | pathogenic | -2.021 | Highly Destabilizing | 1.0 | D | 0.767 | deleterious | N | 0.473277661 | None | None | N |
| I/P | 0.9871 | likely_pathogenic | 0.9915 | pathogenic | -1.7 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| I/Q | 0.7335 | likely_pathogenic | 0.7647 | pathogenic | -2.096 | Highly Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| I/R | 0.5209 | ambiguous | 0.5791 | pathogenic | -1.35 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| I/S | 0.5339 | ambiguous | 0.5764 | pathogenic | -2.725 | Highly Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.465756016 | None | None | N |
| I/T | 0.2119 | likely_benign | 0.2404 | benign | -2.479 | Highly Destabilizing | 1.0 | D | 0.707 | prob.neutral | N | 0.495409941 | None | None | N |
| I/V | 0.0804 | likely_benign | 0.0771 | benign | -1.7 | Destabilizing | 0.993 | D | 0.411 | neutral | N | 0.448696217 | None | None | N |
| I/W | 0.8879 | likely_pathogenic | 0.9118 | pathogenic | -1.837 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| I/Y | 0.7338 | likely_pathogenic | 0.7556 | pathogenic | -1.63 | Destabilizing | 1.0 | D | 0.757 | 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.