Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1847 | 5764;5765;5766 | chr2:178776325;178776324;178776323 | chr2:179641052;179641051;179641050 |
| N2AB | 1847 | 5764;5765;5766 | chr2:178776325;178776324;178776323 | chr2:179641052;179641051;179641050 |
| N2A | 1847 | 5764;5765;5766 | chr2:178776325;178776324;178776323 | chr2:179641052;179641051;179641050 |
| N2B | 1801 | 5626;5627;5628 | chr2:178776325;178776324;178776323 | chr2:179641052;179641051;179641050 |
| Novex-1 | 1801 | 5626;5627;5628 | chr2:178776325;178776324;178776323 | chr2:179641052;179641051;179641050 |
| Novex-2 | 1801 | 5626;5627;5628 | chr2:178776325;178776324;178776323 | chr2:179641052;179641051;179641050 |
| Novex-3 | 1847 | 5764;5765;5766 | chr2:178776325;178776324;178776323 | chr2:179641052;179641051;179641050 |
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 | rs138778559  |
-2.701 | 1.0 | N | 0.855 | 0.466 | None | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.8E-06 | 0 |
| P/S | rs138778559 |
-2.701 | 1.0 | N | 0.855 | 0.466 | None | gnomAD-4.0.0 | 1.59104E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85662E-06 | 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 | 0.6645 | likely_pathogenic | 0.7265 | pathogenic | -2.385 | Highly Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.569792567 | None | None | N |
| P/C | 0.9703 | likely_pathogenic | 0.9802 | pathogenic | -1.71 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/D | 0.9983 | likely_pathogenic | 0.9986 | pathogenic | -3.452 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| P/E | 0.9938 | likely_pathogenic | 0.995 | pathogenic | -3.173 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/F | 0.9946 | likely_pathogenic | 0.9964 | pathogenic | -1.502 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| P/G | 0.973 | likely_pathogenic | 0.9798 | pathogenic | -2.919 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/H | 0.9932 | likely_pathogenic | 0.9949 | pathogenic | -2.677 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/I | 0.9347 | likely_pathogenic | 0.9568 | pathogenic | -0.832 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| P/K | 0.9963 | likely_pathogenic | 0.9973 | pathogenic | -2.111 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| P/L | 0.7521 | likely_pathogenic | 0.8445 | pathogenic | -0.832 | Destabilizing | 1.0 | D | 0.9 | deleterious | N | 0.421440568 | None | None | N |
| P/M | 0.9571 | likely_pathogenic | 0.9742 | pathogenic | -0.848 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| P/N | 0.9972 | likely_pathogenic | 0.9979 | pathogenic | -2.668 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| P/Q | 0.9863 | likely_pathogenic | 0.9894 | pathogenic | -2.439 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.555632474 | None | None | N |
| P/R | 0.9894 | likely_pathogenic | 0.9916 | pathogenic | -2.017 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | D | 0.554773878 | None | None | N |
| P/S | 0.9576 | likely_pathogenic | 0.9661 | pathogenic | -3.156 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | N | 0.508090179 | None | None | N |
| P/T | 0.8898 | likely_pathogenic | 0.9194 | pathogenic | -2.741 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | N | 0.476134984 | None | None | N |
| P/V | 0.8574 | likely_pathogenic | 0.8954 | pathogenic | -1.333 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| P/W | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -2.055 | Highly Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| P/Y | 0.9984 | likely_pathogenic | 0.9989 | pathogenic | -1.701 | Destabilizing | 1.0 | D | 0.901 | 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.