Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32198 | 96817;96818;96819 | chr2:178543381;178543380;178543379 | chr2:179408108;179408107;179408106 |
| N2AB | 30557 | 91894;91895;91896 | chr2:178543381;178543380;178543379 | chr2:179408108;179408107;179408106 |
| N2A | 29630 | 89113;89114;89115 | chr2:178543381;178543380;178543379 | chr2:179408108;179408107;179408106 |
| N2B | 23133 | 69622;69623;69624 | chr2:178543381;178543380;178543379 | chr2:179408108;179408107;179408106 |
| Novex-1 | 23258 | 69997;69998;69999 | chr2:178543381;178543380;178543379 | chr2:179408108;179408107;179408106 |
| Novex-2 | 23325 | 70198;70199;70200 | chr2:178543381;178543380;178543379 | chr2:179408108;179408107;179408106 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/M | None | None | 0.999 | N | 0.719 | 0.162 | 0.476832112026 | gnomAD-4.0.0 | 6.84187E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65651E-05 |
| L/V | rs752075170  |
-0.666 | 0.997 | N | 0.77 | 0.218 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| L/V | rs752075170 |
-0.666 | 0.997 | N | 0.77 | 0.218 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 3.16456E-03 | 1.47E-05 | 0 | 0 |
| L/V | rs752075170 |
-0.666 | 0.997 | N | 0.77 | 0.218 | None | gnomAD-4.0.0 | 3.71776E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.65017E-04 | 4.23798E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.2722 | likely_benign | 0.2217 | benign | -1.084 | Destabilizing | 0.998 | D | 0.798 | deleterious | None | None | None | None | N |
| L/C | 0.5585 | ambiguous | 0.4969 | ambiguous | -0.756 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| L/D | 0.8903 | likely_pathogenic | 0.848 | pathogenic | -0.271 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| L/E | 0.5497 | ambiguous | 0.4897 | ambiguous | -0.313 | Destabilizing | 0.999 | D | 0.852 | deleterious | None | None | None | None | N |
| L/F | 0.2228 | likely_benign | 0.1869 | benign | -0.793 | Destabilizing | 0.999 | D | 0.769 | deleterious | None | None | None | None | N |
| L/G | 0.6914 | likely_pathogenic | 0.609 | pathogenic | -1.334 | Destabilizing | 0.999 | D | 0.839 | deleterious | None | None | None | None | N |
| L/H | 0.3031 | likely_benign | 0.2695 | benign | -0.457 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| L/I | 0.1112 | likely_benign | 0.1057 | benign | -0.514 | Destabilizing | 0.998 | D | 0.693 | prob.delet. | None | None | None | None | N |
| L/K | 0.212 | likely_benign | 0.2022 | benign | -0.616 | Destabilizing | 0.999 | D | 0.825 | deleterious | None | None | None | None | N |
| L/M | 0.1207 | likely_benign | 0.1132 | benign | -0.444 | Destabilizing | 0.999 | D | 0.719 | prob.delet. | N | 0.492849639 | None | None | N |
| L/N | 0.5793 | likely_pathogenic | 0.5147 | ambiguous | -0.455 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| L/P | 0.356 | ambiguous | 0.2875 | benign | -0.67 | Destabilizing | 1.0 | D | 0.843 | deleterious | N | 0.50406671 | None | None | N |
| L/Q | 0.1692 | likely_benign | 0.1521 | benign | -0.644 | Destabilizing | 1.0 | D | 0.848 | deleterious | N | 0.453600604 | None | None | N |
| L/R | 0.1641 | likely_benign | 0.1561 | benign | -0.028 | Destabilizing | 0.999 | D | 0.855 | deleterious | N | 0.444365045 | None | None | N |
| L/S | 0.4339 | ambiguous | 0.3513 | ambiguous | -1.045 | Destabilizing | 0.999 | D | 0.83 | deleterious | None | None | None | None | N |
| L/T | 0.2338 | likely_benign | 0.1946 | benign | -0.969 | Destabilizing | 0.999 | D | 0.827 | deleterious | None | None | None | None | N |
| L/V | 0.0975 | likely_benign | 0.0898 | benign | -0.67 | Destabilizing | 0.997 | D | 0.77 | deleterious | N | 0.42777944 | None | None | N |
| L/W | 0.3782 | ambiguous | 0.3433 | ambiguous | -0.807 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| L/Y | 0.4874 | ambiguous | 0.4421 | ambiguous | -0.575 | Destabilizing | 0.999 | D | 0.827 | 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.