Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17698 | 53317;53318;53319 | chr2:178607596;178607595;178607594 | chr2:179472323;179472322;179472321 |
| N2AB | 16057 | 48394;48395;48396 | chr2:178607596;178607595;178607594 | chr2:179472323;179472322;179472321 |
| N2A | 15130 | 45613;45614;45615 | chr2:178607596;178607595;178607594 | chr2:179472323;179472322;179472321 |
| N2B | 8633 | 26122;26123;26124 | chr2:178607596;178607595;178607594 | chr2:179472323;179472322;179472321 |
| Novex-1 | 8758 | 26497;26498;26499 | chr2:178607596;178607595;178607594 | chr2:179472323;179472322;179472321 |
| Novex-2 | 8825 | 26698;26699;26700 | chr2:178607596;178607595;178607594 | chr2:179472323;179472322;179472321 |
| 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/C | None | None | 1.0 | D | 0.705 | 0.699 | 0.801087466005 | gnomAD-4.0.0 | 6.84435E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.6575E-05 |
| G/D | None | None | 1.0 | D | 0.817 | 0.718 | 0.703032555758 | gnomAD-4.0.0 | 1.36885E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.52067E-05 | None | 0 | 0 | 8.99719E-07 | 0 | 0 |
| G/S | None | None | 1.0 | D | 0.785 | 0.713 | 0.632936377593 | gnomAD-4.0.0 | 6.84435E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99714E-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 | 0.8741 | likely_pathogenic | 0.8848 | pathogenic | -0.312 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | D | 0.576698338 | None | None | I |
| G/C | 0.9793 | likely_pathogenic | 0.9845 | pathogenic | -0.737 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | D | 0.651383916 | None | None | I |
| G/D | 0.9967 | likely_pathogenic | 0.9975 | pathogenic | -0.953 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.63415373 | None | None | I |
| G/E | 0.9976 | likely_pathogenic | 0.9982 | pathogenic | -1.112 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/F | 0.9985 | likely_pathogenic | 0.9988 | pathogenic | -1.042 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| G/H | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -0.713 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| G/I | 0.998 | likely_pathogenic | 0.9986 | pathogenic | -0.421 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| G/K | 0.999 | likely_pathogenic | 0.9992 | pathogenic | -1.052 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| G/L | 0.9978 | likely_pathogenic | 0.9983 | pathogenic | -0.421 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | I |
| G/M | 0.999 | likely_pathogenic | 0.9994 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | I |
| G/N | 0.9985 | likely_pathogenic | 0.9988 | pathogenic | -0.564 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/P | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -0.352 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/Q | 0.9982 | likely_pathogenic | 0.9987 | pathogenic | -0.866 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/R | 0.9952 | likely_pathogenic | 0.996 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.634960947 | None | None | I |
| G/S | 0.9284 | likely_pathogenic | 0.9437 | pathogenic | -0.621 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.599530836 | None | None | I |
| G/T | 0.9939 | likely_pathogenic | 0.9956 | pathogenic | -0.727 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/V | 0.9938 | likely_pathogenic | 0.9955 | pathogenic | -0.352 | Destabilizing | 1.0 | D | 0.78 | deleterious | D | 0.634960947 | None | None | I |
| G/W | 0.9972 | likely_pathogenic | 0.9977 | pathogenic | -1.24 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | I |
| G/Y | 0.9986 | likely_pathogenic | 0.9989 | pathogenic | -0.898 | Destabilizing | 1.0 | D | 0.761 | deleterious | 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.