Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4785 | 14578;14579;14580 | chr2:178738100;178738099;178738098 | chr2:179602827;179602826;179602825 |
| N2AB | 4468 | 13627;13628;13629 | chr2:178738100;178738099;178738098 | chr2:179602827;179602826;179602825 |
| N2A | 3541 | 10846;10847;10848 | chr2:178738100;178738099;178738098 | chr2:179602827;179602826;179602825 |
| N2B | 4422 | 13489;13490;13491 | chr2:178738100;178738099;178738098 | chr2:179602827;179602826;179602825 |
| Novex-1 | 4547 | 13864;13865;13866 | chr2:178738100;178738099;178738098 | chr2:179602827;179602826;179602825 |
| Novex-2 | 4614 | 14065;14066;14067 | chr2:178738100;178738099;178738098 | chr2:179602827;179602826;179602825 |
| 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 | rs755901072  |
-0.813 | 1.0 | D | 0.683 | 0.559 | 0.51847606553 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.63623E-04 | None | 0 | 0 | 0 |
| A/T | rs755901072 |
-0.813 | 1.0 | D | 0.683 | 0.559 | 0.51847606553 | gnomAD-4.0.0 | 1.2319E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.08773E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9093 | likely_pathogenic | 0.9302 | pathogenic | -1.074 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| A/D | 0.9585 | likely_pathogenic | 0.9646 | pathogenic | -1.699 | Destabilizing | 1.0 | D | 0.91 | deleterious | D | 0.768374568 | None | None | N |
| A/E | 0.9683 | likely_pathogenic | 0.9731 | pathogenic | -1.629 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| A/F | 0.9862 | likely_pathogenic | 0.9841 | pathogenic | -0.967 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| A/G | 0.2977 | likely_benign | 0.3144 | benign | -1.424 | Destabilizing | 1.0 | D | 0.559 | neutral | D | 0.525177569 | None | None | N |
| A/H | 0.9889 | likely_pathogenic | 0.9883 | pathogenic | -1.715 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| A/I | 0.9733 | likely_pathogenic | 0.9813 | pathogenic | -0.14 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| A/K | 0.9908 | likely_pathogenic | 0.9917 | pathogenic | -1.205 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/L | 0.9523 | likely_pathogenic | 0.9565 | pathogenic | -0.14 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| A/M | 0.9438 | likely_pathogenic | 0.9495 | pathogenic | -0.182 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| A/N | 0.9545 | likely_pathogenic | 0.9589 | pathogenic | -1.155 | Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | None | N |
| A/P | 0.9965 | likely_pathogenic | 0.9964 | pathogenic | -0.401 | Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.732057696 | None | None | N |
| A/Q | 0.9636 | likely_pathogenic | 0.9682 | pathogenic | -1.175 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| A/R | 0.978 | likely_pathogenic | 0.979 | pathogenic | -1.054 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| A/S | 0.2092 | likely_benign | 0.2252 | benign | -1.579 | Destabilizing | 1.0 | D | 0.581 | neutral | D | 0.546810213 | None | None | N |
| A/T | 0.5342 | ambiguous | 0.5621 | ambiguous | -1.397 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | D | 0.587621805 | None | None | N |
| A/V | 0.8301 | likely_pathogenic | 0.8694 | pathogenic | -0.401 | Destabilizing | 1.0 | D | 0.603 | neutral | N | 0.507032417 | None | None | N |
| A/W | 0.9986 | likely_pathogenic | 0.9984 | pathogenic | -1.505 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| A/Y | 0.9913 | likely_pathogenic | 0.9905 | pathogenic | -1.013 | Destabilizing | 1.0 | D | 0.915 | 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.