Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5637 | 17134;17135;17136 | chr2:178731966;178731965;178731964 | chr2:179596693;179596692;179596691 |
| N2AB | 5320 | 16183;16184;16185 | chr2:178731966;178731965;178731964 | chr2:179596693;179596692;179596691 |
| N2A | 4393 | 13402;13403;13404 | chr2:178731966;178731965;178731964 | chr2:179596693;179596692;179596691 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | None | None | 1.0 | D | 0.833 | 0.501 | 0.673546118213 | gnomAD-4.0.0 | 2.40064E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-05 | 0 | 0 |
| P/L | rs749185334  |
-0.24 | 1.0 | D | 0.871 | 0.522 | 0.838246210828 | gnomAD-2.1.1 | 4.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.36E-05 | None | 0 | 0 | 0 |
| P/L | rs749185334 |
-0.24 | 1.0 | D | 0.871 | 0.522 | 0.838246210828 | gnomAD-4.0.0 | 2.75277E-06 | None | None | None | None | N | None | 3.00625E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 9.04431E-07 | 1.16885E-05 | 1.66678E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.6468 | likely_pathogenic | 0.6315 | pathogenic | -1.576 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.613298195 | None | None | N |
| P/C | 0.9751 | likely_pathogenic | 0.9765 | pathogenic | -1.397 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| P/D | 0.998 | likely_pathogenic | 0.9982 | pathogenic | -1.048 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| P/E | 0.9942 | likely_pathogenic | 0.9947 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| P/F | 0.9967 | likely_pathogenic | 0.9977 | pathogenic | -0.965 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| P/G | 0.9756 | likely_pathogenic | 0.9759 | pathogenic | -2.032 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| P/H | 0.9901 | likely_pathogenic | 0.9925 | pathogenic | -1.619 | Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.630155133 | None | None | N |
| P/I | 0.9442 | likely_pathogenic | 0.9569 | pathogenic | -0.354 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/K | 0.9967 | likely_pathogenic | 0.9972 | pathogenic | -0.937 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| P/L | 0.8606 | likely_pathogenic | 0.8907 | pathogenic | -0.354 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.629953329 | None | None | N |
| P/M | 0.9841 | likely_pathogenic | 0.9877 | pathogenic | -0.627 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/N | 0.9952 | likely_pathogenic | 0.9957 | pathogenic | -1.025 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| P/Q | 0.986 | likely_pathogenic | 0.9875 | pathogenic | -0.948 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| P/R | 0.985 | likely_pathogenic | 0.9869 | pathogenic | -0.846 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.630155133 | None | None | N |
| P/S | 0.9273 | likely_pathogenic | 0.9301 | pathogenic | -1.798 | Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.629751525 | None | None | N |
| P/T | 0.9036 | likely_pathogenic | 0.9139 | pathogenic | -1.5 | Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.629953329 | None | None | N |
| P/V | 0.8784 | likely_pathogenic | 0.8993 | pathogenic | -0.73 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| P/W | 0.9989 | likely_pathogenic | 0.9994 | pathogenic | -1.234 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| P/Y | 0.9977 | likely_pathogenic | 0.9984 | pathogenic | -0.857 | Destabilizing | 1.0 | D | 0.87 | 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.