Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1613 | 5062;5063;5064 | chr2:178777027;178777026;178777025 | chr2:179641754;179641753;179641752 |
| N2AB | 1613 | 5062;5063;5064 | chr2:178777027;178777026;178777025 | chr2:179641754;179641753;179641752 |
| N2A | 1613 | 5062;5063;5064 | chr2:178777027;178777026;178777025 | chr2:179641754;179641753;179641752 |
| N2B | 1567 | 4924;4925;4926 | chr2:178777027;178777026;178777025 | chr2:179641754;179641753;179641752 |
| Novex-1 | 1567 | 4924;4925;4926 | chr2:178777027;178777026;178777025 | chr2:179641754;179641753;179641752 |
| Novex-2 | 1567 | 4924;4925;4926 | chr2:178777027;178777026;178777025 | chr2:179641754;179641753;179641752 |
| Novex-3 | 1613 | 5062;5063;5064 | chr2:178777027;178777026;178777025 | chr2:179641754;179641753;179641752 |
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/G | rs946583596  |
None | 0.996 | N | 0.648 | 0.36 | 0.144782658237 | gnomAD-4.0.0 | 2.73656E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.5973E-06 | 0 | 0 |
| A/P | rs757349504 |
None | 0.999 | N | 0.853 | 0.37 | 0.184867976434 | gnomAD-4.0.0 | 6.84131E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99321E-07 | 0 | 0 |
| A/T | rs757349504 |
-1.053 | 0.992 | N | 0.668 | 0.309 | 0.132336055621 | gnomAD-2.1.1 | 1.6E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.09075E-04 | None | 0 | None | 0 | 1.77E-05 | 0 |
| A/T | rs757349504 |
-1.053 | 0.992 | N | 0.668 | 0.309 | 0.132336055621 | gnomAD-4.0.0 | 8.89371E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.04185E-05 | None | 0 | 0 | 8.99321E-06 | 0 | 1.65601E-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 | 0.77 | likely_pathogenic | 0.6986 | pathogenic | -0.968 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| A/D | 0.9516 | likely_pathogenic | 0.9102 | pathogenic | -1.315 | Destabilizing | 0.999 | D | 0.855 | deleterious | N | 0.468877891 | None | None | N |
| A/E | 0.9281 | likely_pathogenic | 0.8732 | pathogenic | -1.239 | Destabilizing | 0.999 | D | 0.811 | deleterious | None | None | None | None | N |
| A/F | 0.8219 | likely_pathogenic | 0.7468 | pathogenic | -0.757 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| A/G | 0.3228 | likely_benign | 0.2623 | benign | -1.259 | Destabilizing | 0.996 | D | 0.648 | neutral | N | 0.443525469 | None | None | N |
| A/H | 0.9475 | likely_pathogenic | 0.9152 | pathogenic | -1.602 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/I | 0.7423 | likely_pathogenic | 0.613 | pathogenic | 0.061 | Stabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| A/K | 0.9778 | likely_pathogenic | 0.9585 | pathogenic | -1.056 | Destabilizing | 0.999 | D | 0.82 | deleterious | None | None | None | None | N |
| A/L | 0.6493 | likely_pathogenic | 0.5355 | ambiguous | 0.061 | Stabilizing | 0.998 | D | 0.757 | deleterious | None | None | None | None | N |
| A/M | 0.5933 | likely_pathogenic | 0.4674 | ambiguous | -0.099 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| A/N | 0.8465 | likely_pathogenic | 0.7671 | pathogenic | -0.972 | Destabilizing | 0.999 | D | 0.859 | deleterious | None | None | None | None | N |
| A/P | 0.9916 | likely_pathogenic | 0.9838 | pathogenic | -0.206 | Destabilizing | 0.999 | D | 0.853 | deleterious | N | 0.477426591 | None | None | N |
| A/Q | 0.9076 | likely_pathogenic | 0.8591 | pathogenic | -0.956 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| A/R | 0.9604 | likely_pathogenic | 0.9317 | pathogenic | -0.994 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| A/S | 0.1907 | likely_benign | 0.1633 | benign | -1.421 | Destabilizing | 0.957 | D | 0.422 | neutral | N | 0.430054968 | None | None | N |
| A/T | 0.2143 | likely_benign | 0.152 | benign | -1.222 | Destabilizing | 0.992 | D | 0.668 | neutral | N | 0.45009388 | None | None | N |
| A/V | 0.397 | ambiguous | 0.2845 | benign | -0.206 | Destabilizing | 0.998 | D | 0.696 | prob.neutral | N | 0.449275163 | None | None | N |
| A/W | 0.9817 | likely_pathogenic | 0.9703 | pathogenic | -1.295 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| A/Y | 0.911 | likely_pathogenic | 0.8659 | pathogenic | -0.778 | Destabilizing | 1.0 | D | 0.877 | 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.