Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24709 | 74350;74351;74352 | chr2:178572007;178572006;178572005 | chr2:179436734;179436733;179436732 |
| N2AB | 23068 | 69427;69428;69429 | chr2:178572007;178572006;178572005 | chr2:179436734;179436733;179436732 |
| N2A | 22141 | 66646;66647;66648 | chr2:178572007;178572006;178572005 | chr2:179436734;179436733;179436732 |
| N2B | 15644 | 47155;47156;47157 | chr2:178572007;178572006;178572005 | chr2:179436734;179436733;179436732 |
| Novex-1 | 15769 | 47530;47531;47532 | chr2:178572007;178572006;178572005 | chr2:179436734;179436733;179436732 |
| Novex-2 | 15836 | 47731;47732;47733 | chr2:178572007;178572006;178572005 | chr2:179436734;179436733;179436732 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs207462679  |
-2.006 | 1.0 | N | 0.661 | 0.366 | None | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.93E-06 | 0 |
| A/T | rs207462679 |
-2.006 | 1.0 | N | 0.661 | 0.366 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs207462679 |
-2.006 | 1.0 | N | 0.661 | 0.366 | None | gnomAD-4.0.0 | 4.33984E-06 | None | None | None | None | N | None | 2.67258E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54341E-06 | 1.09818E-05 | 1.602E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7415 | likely_pathogenic | 0.7409 | pathogenic | -1.731 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| A/D | 0.9983 | likely_pathogenic | 0.9985 | pathogenic | -2.747 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.516158442 | None | None | N |
| A/E | 0.9931 | likely_pathogenic | 0.9944 | pathogenic | -2.562 | Highly Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| A/F | 0.9815 | likely_pathogenic | 0.9788 | pathogenic | -0.899 | Destabilizing | 0.997 | D | 0.804 | deleterious | None | None | None | None | N |
| A/G | 0.7003 | likely_pathogenic | 0.7234 | pathogenic | -1.82 | Destabilizing | 0.797 | D | 0.596 | neutral | N | 0.516158442 | None | None | N |
| A/H | 0.997 | likely_pathogenic | 0.9971 | pathogenic | -1.968 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| A/I | 0.6303 | likely_pathogenic | 0.6171 | pathogenic | -0.272 | Destabilizing | 0.992 | D | 0.744 | deleterious | None | None | None | None | N |
| A/K | 0.9975 | likely_pathogenic | 0.9979 | pathogenic | -1.342 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| A/L | 0.7418 | likely_pathogenic | 0.7419 | pathogenic | -0.272 | Destabilizing | 0.98 | D | 0.659 | prob.neutral | None | None | None | None | N |
| A/M | 0.8752 | likely_pathogenic | 0.8697 | pathogenic | -0.77 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| A/N | 0.9871 | likely_pathogenic | 0.9875 | pathogenic | -1.704 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| A/P | 0.8722 | likely_pathogenic | 0.8755 | pathogenic | -0.609 | Destabilizing | 1.0 | D | 0.81 | deleterious | N | 0.471325424 | None | None | N |
| A/Q | 0.9857 | likely_pathogenic | 0.986 | pathogenic | -1.558 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| A/R | 0.9902 | likely_pathogenic | 0.991 | pathogenic | -1.364 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| A/S | 0.4058 | ambiguous | 0.4226 | ambiguous | -2.079 | Highly Destabilizing | 0.996 | D | 0.654 | prob.neutral | N | 0.515397973 | None | None | N |
| A/T | 0.4779 | ambiguous | 0.5006 | ambiguous | -1.78 | Destabilizing | 1.0 | D | 0.661 | prob.neutral | N | 0.478935974 | None | None | N |
| A/V | 0.3456 | ambiguous | 0.3504 | ambiguous | -0.609 | Destabilizing | 0.341 | N | 0.352 | neutral | N | 0.47980577 | None | None | N |
| A/W | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -1.534 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| A/Y | 0.9957 | likely_pathogenic | 0.9954 | pathogenic | -1.077 | Destabilizing | 1.0 | D | 0.792 | 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.