Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16524 | 49795;49796;49797 | chr2:178613239;178613238;178613237 | chr2:179477966;179477965;179477964 |
| N2AB | 14883 | 44872;44873;44874 | chr2:178613239;178613238;178613237 | chr2:179477966;179477965;179477964 |
| N2A | 13956 | 42091;42092;42093 | chr2:178613239;178613238;178613237 | chr2:179477966;179477965;179477964 |
| N2B | 7459 | 22600;22601;22602 | chr2:178613239;178613238;178613237 | chr2:179477966;179477965;179477964 |
| Novex-1 | 7584 | 22975;22976;22977 | chr2:178613239;178613238;178613237 | chr2:179477966;179477965;179477964 |
| Novex-2 | 7651 | 23176;23177;23178 | chr2:178613239;178613238;178613237 | chr2:179477966;179477965;179477964 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs779336886  |
-1.759 | 1.0 | D | 0.822 | 0.549 | 0.561637829354 | gnomAD-2.1.1 | 2.43E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.62E-05 | None | 0 | 3.58E-05 | 0 |
| R/C | rs779336886 |
-1.759 | 1.0 | D | 0.822 | 0.549 | 0.561637829354 | gnomAD-4.0.0 | 1.57619E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.53588E-05 | None | 0 | 0 | 1.35032E-05 | 8.17203E-05 | 0 |
| R/H | rs757390152 |
-2.456 | 1.0 | D | 0.823 | 0.643 | 0.570648228706 | gnomAD-2.1.1 | 1.62E-05 | None | None | None | None | N | None | 0 | 2.92E-05 | None | 0 | 0 | None | 6.62E-05 | None | 0 | 8.94E-06 | 0 |
| R/H | rs757390152 |
-2.456 | 1.0 | D | 0.823 | 0.643 | 0.570648228706 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/H | rs757390152 |
-2.456 | 1.0 | D | 0.823 | 0.643 | 0.570648228706 | gnomAD-4.0.0 | 1.55168E-05 | None | None | None | None | N | None | 2.67559E-05 | 1.67263E-05 | None | 0 | 2.24366E-05 | None | 0 | 0 | 1.44215E-05 | 2.20955E-05 | 3.20945E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9856 | likely_pathogenic | 0.9911 | pathogenic | -1.955 | Destabilizing | 0.999 | D | 0.641 | neutral | None | None | None | None | N |
| R/C | 0.7597 | likely_pathogenic | 0.8001 | pathogenic | -1.884 | Destabilizing | 1.0 | D | 0.822 | deleterious | D | 0.726717435 | None | None | N |
| R/D | 0.9987 | likely_pathogenic | 0.9991 | pathogenic | -0.926 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| R/E | 0.9796 | likely_pathogenic | 0.9853 | pathogenic | -0.716 | Destabilizing | 0.999 | D | 0.694 | prob.neutral | None | None | None | None | N |
| R/F | 0.9933 | likely_pathogenic | 0.9946 | pathogenic | -1.25 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| R/G | 0.9874 | likely_pathogenic | 0.9926 | pathogenic | -2.29 | Highly Destabilizing | 1.0 | D | 0.738 | prob.delet. | D | 0.779700526 | None | None | N |
| R/H | 0.5924 | likely_pathogenic | 0.5461 | ambiguous | -2.174 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.689548402 | None | None | N |
| R/I | 0.9671 | likely_pathogenic | 0.9784 | pathogenic | -0.986 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| R/K | 0.669 | likely_pathogenic | 0.654 | pathogenic | -1.305 | Destabilizing | 0.998 | D | 0.66 | neutral | None | None | None | None | N |
| R/L | 0.9461 | likely_pathogenic | 0.9645 | pathogenic | -0.986 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | D | 0.656290764 | None | None | N |
| R/M | 0.9754 | likely_pathogenic | 0.9837 | pathogenic | -1.501 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| R/N | 0.9942 | likely_pathogenic | 0.9949 | pathogenic | -1.246 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| R/P | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -1.298 | Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.780994765 | None | None | N |
| R/Q | 0.5909 | likely_pathogenic | 0.6078 | pathogenic | -1.132 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| R/S | 0.9907 | likely_pathogenic | 0.994 | pathogenic | -2.144 | Highly Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.667478372 | None | None | N |
| R/T | 0.9807 | likely_pathogenic | 0.9892 | pathogenic | -1.727 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| R/V | 0.9695 | likely_pathogenic | 0.9803 | pathogenic | -1.298 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| R/W | 0.9003 | likely_pathogenic | 0.9189 | pathogenic | -0.789 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| R/Y | 0.9751 | likely_pathogenic | 0.9788 | pathogenic | -0.623 | Destabilizing | 1.0 | D | 0.837 | 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.