Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8078 | 24457;24458;24459 | chr2:178718968;178718967;178718966 | chr2:179583695;179583694;179583693 |
| N2AB | 7761 | 23506;23507;23508 | chr2:178718968;178718967;178718966 | chr2:179583695;179583694;179583693 |
| N2A | 6834 | 20725;20726;20727 | chr2:178718968;178718967;178718966 | chr2:179583695;179583694;179583693 |
| 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/L | rs1419971092  |
None | 1.0 | D | 0.898 | 0.783 | 0.921701612673 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93199E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/Q | None | None | 1.0 | D | 0.884 | 0.781 | 0.861147461873 | gnomAD-4.0.0 | 1.62111E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.90591E-06 | 0 | 0 |
| P/R | rs1419971092 |
None | 1.0 | D | 0.894 | 0.773 | 0.882996757023 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93199E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/R | rs1419971092 |
None | 1.0 | D | 0.894 | 0.773 | 0.882996757023 | gnomAD-4.0.0 | 6.57704E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.93199E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs750589456 |
None | 1.0 | D | 0.897 | 0.768 | 0.715476549107 | gnomAD-4.0.0 | 1.37894E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.54207E-05 | None | 0 | 0 | 0 | 1.1805E-05 | 0 |
| P/T | rs750589456 |
-1.488 | 1.0 | D | 0.896 | 0.783 | 0.858583215259 | gnomAD-2.1.1 | 4.3E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.94E-05 | None | 0 | None | 0 | 0 | 0 |
| P/T | rs750589456 |
-1.488 | 1.0 | D | 0.896 | 0.783 | 0.858583215259 | gnomAD-4.0.0 | 2.0684E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 7.62621E-05 | None | 0 | 0 | 0 | 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 | 0.6328 | likely_pathogenic | 0.4306 | ambiguous | -1.643 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.608190573 | None | None | N |
| P/C | 0.983 | likely_pathogenic | 0.9605 | pathogenic | -1.517 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/D | 0.999 | likely_pathogenic | 0.9983 | pathogenic | -1.028 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| P/E | 0.996 | likely_pathogenic | 0.9926 | pathogenic | -0.957 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/F | 0.9967 | likely_pathogenic | 0.9937 | pathogenic | -1.191 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| P/G | 0.9866 | likely_pathogenic | 0.9703 | pathogenic | -2.033 | Highly Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| P/H | 0.995 | likely_pathogenic | 0.9904 | pathogenic | -1.527 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/I | 0.9245 | likely_pathogenic | 0.8747 | pathogenic | -0.639 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/K | 0.9975 | likely_pathogenic | 0.9956 | pathogenic | -1.144 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/L | 0.8384 | likely_pathogenic | 0.7481 | pathogenic | -0.639 | Destabilizing | 1.0 | D | 0.898 | deleterious | D | 0.640632903 | None | None | N |
| P/M | 0.9816 | likely_pathogenic | 0.9649 | pathogenic | -0.748 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| P/N | 0.9979 | likely_pathogenic | 0.9964 | pathogenic | -1.076 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| P/Q | 0.9911 | likely_pathogenic | 0.9816 | pathogenic | -1.133 | Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.640834707 | None | None | N |
| P/R | 0.9901 | likely_pathogenic | 0.9827 | pathogenic | -0.83 | Destabilizing | 1.0 | D | 0.894 | deleterious | D | 0.640834707 | None | None | N |
| P/S | 0.9564 | likely_pathogenic | 0.905 | pathogenic | -1.81 | Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.624411738 | None | None | N |
| P/T | 0.9398 | likely_pathogenic | 0.8825 | pathogenic | -1.6 | Destabilizing | 1.0 | D | 0.896 | deleterious | D | 0.640632903 | None | None | N |
| P/V | 0.8285 | likely_pathogenic | 0.7396 | pathogenic | -0.939 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| P/W | 0.9995 | likely_pathogenic | 0.9989 | pathogenic | -1.36 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/Y | 0.9983 | likely_pathogenic | 0.9965 | pathogenic | -1.036 | Destabilizing | 1.0 | D | 0.887 | 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.