Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7474 | 22645;22646;22647 | chr2:178722367;178722366;178722365 | chr2:179587094;179587093;179587092 |
| N2AB | 7157 | 21694;21695;21696 | chr2:178722367;178722366;178722365 | chr2:179587094;179587093;179587092 |
| N2A | 6230 | 18913;18914;18915 | chr2:178722367;178722366;178722365 | chr2:179587094;179587093;179587092 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs759713604  |
-1.384 | 1.0 | N | 0.721 | 0.455 | None | gnomAD-2.1.1 | 1.21931E-04 | None | None | None | None | N | None | 4.14E-05 | 2.84E-05 | None | 0 | 0 | None | 2.9458E-04 | None | 0 | 1.57332E-04 | 4.23849E-04 |
| A/T | rs759713604 |
-1.384 | 1.0 | N | 0.721 | 0.455 | None | gnomAD-3.1.2 | 7.24E-05 | None | None | None | None | N | None | 2.41E-05 | 6.57E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.32341E-04 | 0 | 0 |
| A/T | rs759713604 |
-1.384 | 1.0 | N | 0.721 | 0.455 | None | gnomAD-4.0.0 | 2.69038E-04 | None | None | None | None | N | None | 4.00802E-05 | 5.00734E-05 | None | 3.37998E-05 | 0 | None | 0 | 0 | 3.39109E-04 | 2.08672E-04 | 1.28156E-04 |
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 | 0.8426 | likely_pathogenic | 0.7813 | pathogenic | -0.733 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| A/D | 0.9916 | likely_pathogenic | 0.9915 | pathogenic | -1.936 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| A/E | 0.9827 | likely_pathogenic | 0.9836 | pathogenic | -1.717 | Destabilizing | 1.0 | D | 0.823 | deleterious | N | 0.49701309 | None | None | N |
| A/F | 0.8942 | likely_pathogenic | 0.8851 | pathogenic | -0.407 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| A/G | 0.3471 | ambiguous | 0.3719 | ambiguous | -1.186 | Destabilizing | 1.0 | D | 0.575 | neutral | N | 0.491212922 | None | None | N |
| A/H | 0.9849 | likely_pathogenic | 0.9853 | pathogenic | -1.854 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| A/I | 0.8387 | likely_pathogenic | 0.8065 | pathogenic | 0.676 | Stabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| A/K | 0.9958 | likely_pathogenic | 0.9961 | pathogenic | -0.686 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| A/L | 0.6794 | likely_pathogenic | 0.6521 | pathogenic | 0.676 | Stabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| A/M | 0.7987 | likely_pathogenic | 0.7702 | pathogenic | 0.347 | Stabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| A/N | 0.9762 | likely_pathogenic | 0.9765 | pathogenic | -1.03 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| A/P | 0.9758 | likely_pathogenic | 0.9818 | pathogenic | 0.268 | Stabilizing | 1.0 | D | 0.853 | deleterious | N | 0.511865342 | None | None | N |
| A/Q | 0.9702 | likely_pathogenic | 0.9723 | pathogenic | -0.769 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| A/R | 0.9855 | likely_pathogenic | 0.987 | pathogenic | -1.0 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| A/S | 0.3718 | ambiguous | 0.3707 | ambiguous | -1.433 | Destabilizing | 1.0 | D | 0.582 | neutral | N | 0.484457521 | None | None | N |
| A/T | 0.5637 | ambiguous | 0.5132 | ambiguous | -1.077 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | N | 0.485212257 | None | None | N |
| A/V | 0.5282 | ambiguous | 0.4765 | ambiguous | 0.268 | Stabilizing | 1.0 | D | 0.626 | neutral | N | 0.484099848 | None | None | N |
| A/W | 0.9928 | likely_pathogenic | 0.9922 | pathogenic | -1.277 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| A/Y | 0.9677 | likely_pathogenic | 0.9658 | pathogenic | -0.627 | Destabilizing | 1.0 | D | 0.89 | 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.