Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6973 | 21142;21143;21144 | chr2:178724458;178724457;178724456 | chr2:179589185;179589184;179589183 |
| N2AB | 6656 | 20191;20192;20193 | chr2:178724458;178724457;178724456 | chr2:179589185;179589184;179589183 |
| N2A | 5729 | 17410;17411;17412 | chr2:178724458;178724457;178724456 | chr2:179589185;179589184;179589183 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs760012943  |
-0.503 | 1.0 | D | 0.807 | 0.698 | 0.65404562455 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| G/D | rs760012943 |
-0.503 | 1.0 | D | 0.807 | 0.698 | 0.65404562455 | gnomAD-4.0.0 | 3.18492E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.77423E-05 | None | 0 | 0 | 2.86048E-06 | 0 | 0 |
| G/S | rs1320591488 |
-0.253 | 1.0 | D | 0.815 | 0.613 | 0.549504238362 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs1320591488 |
-0.253 | 1.0 | D | 0.815 | 0.613 | 0.549504238362 | gnomAD-4.0.0 | 1.36884E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.52042E-05 | None | 0 | 0 | 8.99671E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7169 | likely_pathogenic | 0.7581 | pathogenic | -0.276 | Destabilizing | 1.0 | D | 0.757 | deleterious | D | 0.574286676 | None | None | I |
| G/C | 0.9767 | likely_pathogenic | 0.9809 | pathogenic | -0.785 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | D | 0.595432235 | None | None | I |
| G/D | 0.9899 | likely_pathogenic | 0.9913 | pathogenic | -0.761 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.60374016 | None | None | I |
| G/E | 0.9921 | likely_pathogenic | 0.9934 | pathogenic | -0.91 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/F | 0.9957 | likely_pathogenic | 0.9968 | pathogenic | -0.94 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| G/H | 0.9976 | likely_pathogenic | 0.9982 | pathogenic | -0.642 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | I |
| G/I | 0.9907 | likely_pathogenic | 0.9924 | pathogenic | -0.323 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | I |
| G/K | 0.9971 | likely_pathogenic | 0.9976 | pathogenic | -0.985 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/L | 0.9923 | likely_pathogenic | 0.9943 | pathogenic | -0.323 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| G/M | 0.996 | likely_pathogenic | 0.9971 | pathogenic | -0.404 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | None | I |
| G/N | 0.9938 | likely_pathogenic | 0.9951 | pathogenic | -0.545 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/P | 0.998 | likely_pathogenic | 0.9985 | pathogenic | -0.272 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/Q | 0.9949 | likely_pathogenic | 0.996 | pathogenic | -0.822 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| G/R | 0.9888 | likely_pathogenic | 0.9909 | pathogenic | -0.533 | Destabilizing | 1.0 | D | 0.792 | deleterious | D | 0.595028627 | None | None | I |
| G/S | 0.8477 | likely_pathogenic | 0.8659 | pathogenic | -0.664 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.57792423 | None | None | I |
| G/T | 0.9773 | likely_pathogenic | 0.9814 | pathogenic | -0.747 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/V | 0.9741 | likely_pathogenic | 0.979 | pathogenic | -0.272 | Destabilizing | 1.0 | D | 0.76 | deleterious | D | 0.557650118 | None | None | I |
| G/W | 0.9935 | likely_pathogenic | 0.9952 | pathogenic | -1.152 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | I |
| G/Y | 0.9954 | likely_pathogenic | 0.997 | pathogenic | -0.787 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | I |
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.