Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16552 | 49879;49880;49881 | chr2:178613067;178613066;178613065 | chr2:179477794;179477793;179477792 |
| N2AB | 14911 | 44956;44957;44958 | chr2:178613067;178613066;178613065 | chr2:179477794;179477793;179477792 |
| N2A | 13984 | 42175;42176;42177 | chr2:178613067;178613066;178613065 | chr2:179477794;179477793;179477792 |
| N2B | 7487 | 22684;22685;22686 | chr2:178613067;178613066;178613065 | chr2:179477794;179477793;179477792 |
| Novex-1 | 7612 | 23059;23060;23061 | chr2:178613067;178613066;178613065 | chr2:179477794;179477793;179477792 |
| Novex-2 | 7679 | 23260;23261;23262 | chr2:178613067;178613066;178613065 | chr2:179477794;179477793;179477792 |
| 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/S | rs2056637064  |
None | 1.0 | D | 0.764 | 0.809 | 0.743827233159 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/S | rs2056637064 |
None | 1.0 | D | 0.764 | 0.809 | 0.743827233159 | gnomAD-4.0.0 | 6.5812E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47171E-05 | 0 | 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 | 0.8281 | likely_pathogenic | 0.9051 | pathogenic | -1.937 | Destabilizing | 0.999 | D | 0.799 | deleterious | D | 0.769766314 | None | None | N |
| P/C | 0.9885 | likely_pathogenic | 0.9933 | pathogenic | -2.202 | Highly Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| P/D | 0.9995 | likely_pathogenic | 0.9998 | pathogenic | -3.476 | Highly Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| P/E | 0.9985 | likely_pathogenic | 0.9994 | pathogenic | -3.338 | Highly Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| P/F | 0.9995 | likely_pathogenic | 0.9998 | pathogenic | -1.029 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| P/G | 0.992 | likely_pathogenic | 0.9957 | pathogenic | -2.327 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| P/H | 0.9979 | likely_pathogenic | 0.9992 | pathogenic | -1.831 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| P/I | 0.9907 | likely_pathogenic | 0.9956 | pathogenic | -0.867 | Destabilizing | 1.0 | D | 0.733 | deleterious | None | None | None | None | N |
| P/K | 0.9989 | likely_pathogenic | 0.9995 | pathogenic | -1.766 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| P/L | 0.9638 | likely_pathogenic | 0.9829 | pathogenic | -0.867 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.723987587 | None | None | N |
| P/M | 0.9965 | likely_pathogenic | 0.9983 | pathogenic | -1.195 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| P/N | 0.9992 | likely_pathogenic | 0.9997 | pathogenic | -2.191 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| P/Q | 0.9968 | likely_pathogenic | 0.9988 | pathogenic | -2.157 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.801873261 | None | None | N |
| P/R | 0.9953 | likely_pathogenic | 0.998 | pathogenic | -1.451 | Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.735275627 | None | None | N |
| P/S | 0.9801 | likely_pathogenic | 0.9922 | pathogenic | -2.562 | Highly Destabilizing | 1.0 | D | 0.764 | deleterious | D | 0.73518062 | None | None | N |
| P/T | 0.9818 | likely_pathogenic | 0.9932 | pathogenic | -2.317 | Highly Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.769610558 | None | None | N |
| P/V | 0.9701 | likely_pathogenic | 0.9839 | pathogenic | -1.201 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -1.498 | Destabilizing | 1.0 | D | 0.736 | deleterious | None | None | None | None | N |
| P/Y | 0.9995 | likely_pathogenic | 0.9998 | pathogenic | -1.248 | Destabilizing | 1.0 | D | 0.811 | 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.