Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26129 | 78610;78611;78612 | chr2:178567747;178567746;178567745 | chr2:179432474;179432473;179432472 |
| N2AB | 24488 | 73687;73688;73689 | chr2:178567747;178567746;178567745 | chr2:179432474;179432473;179432472 |
| N2A | 23561 | 70906;70907;70908 | chr2:178567747;178567746;178567745 | chr2:179432474;179432473;179432472 |
| N2B | 17064 | 51415;51416;51417 | chr2:178567747;178567746;178567745 | chr2:179432474;179432473;179432472 |
| Novex-1 | 17189 | 51790;51791;51792 | chr2:178567747;178567746;178567745 | chr2:179432474;179432473;179432472 |
| Novex-2 | 17256 | 51991;51992;51993 | chr2:178567747;178567746;178567745 | chr2:179432474;179432473;179432472 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs1297041151  |
-1.536 | 0.989 | N | 0.665 | 0.516 | 0.404453528171 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| D/G | rs1297041151 |
-1.536 | 0.989 | N | 0.665 | 0.516 | 0.404453528171 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/G | rs1297041151 |
-1.536 | 0.989 | N | 0.665 | 0.516 | 0.404453528171 | gnomAD-4.0.0 | 6.57523E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47106E-05 | 0 | 0 |
| D/Y | rs199814673 |
-0.609 | 1.0 | N | 0.786 | 0.532 | None | gnomAD-2.1.1 | 9.68E-05 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.96267E-04 | 1.66556E-04 |
| D/Y | rs199814673 |
-0.609 | 1.0 | N | 0.786 | 0.532 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 4.77555E-04 |
| D/Y | rs199814673 |
-0.609 | 1.0 | N | 0.786 | 0.532 | None | gnomAD-4.0.0 | 8.33598E-05 | None | None | None | None | N | None | 0 | 1.69653E-05 | None | 0 | 0 | None | 4.70972E-05 | 0 | 1.1502E-04 | 0 | 3.70181E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.4047 | ambiguous | 0.4005 | ambiguous | -0.522 | Destabilizing | 0.993 | D | 0.657 | neutral | N | 0.472418742 | None | None | N |
| D/C | 0.8545 | likely_pathogenic | 0.846 | pathogenic | -0.362 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| D/E | 0.2224 | likely_benign | 0.2415 | benign | -0.815 | Destabilizing | 0.117 | N | 0.301 | neutral | N | 0.417237159 | None | None | N |
| D/F | 0.8468 | likely_pathogenic | 0.8328 | pathogenic | -0.151 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| D/G | 0.5492 | ambiguous | 0.5411 | ambiguous | -0.934 | Destabilizing | 0.989 | D | 0.665 | neutral | N | 0.474584789 | None | None | N |
| D/H | 0.7084 | likely_pathogenic | 0.6836 | pathogenic | -0.651 | Destabilizing | 0.999 | D | 0.763 | deleterious | N | 0.493676548 | None | None | N |
| D/I | 0.5972 | likely_pathogenic | 0.5863 | pathogenic | 0.589 | Stabilizing | 0.998 | D | 0.813 | deleterious | None | None | None | None | N |
| D/K | 0.797 | likely_pathogenic | 0.7849 | pathogenic | -0.866 | Destabilizing | 0.99 | D | 0.665 | neutral | None | None | None | None | N |
| D/L | 0.624 | likely_pathogenic | 0.5984 | pathogenic | 0.589 | Stabilizing | 0.995 | D | 0.805 | deleterious | None | None | None | None | N |
| D/M | 0.8012 | likely_pathogenic | 0.798 | pathogenic | 1.127 | Stabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| D/N | 0.2454 | likely_benign | 0.2511 | benign | -1.223 | Destabilizing | 0.993 | D | 0.623 | neutral | N | 0.511168827 | None | None | N |
| D/P | 0.8578 | likely_pathogenic | 0.839 | pathogenic | 0.245 | Stabilizing | 0.998 | D | 0.793 | deleterious | None | None | None | None | N |
| D/Q | 0.6651 | likely_pathogenic | 0.6518 | pathogenic | -0.985 | Destabilizing | 0.99 | D | 0.729 | prob.delet. | None | None | None | None | N |
| D/R | 0.8456 | likely_pathogenic | 0.8269 | pathogenic | -0.782 | Destabilizing | 0.995 | D | 0.786 | deleterious | None | None | None | None | N |
| D/S | 0.3553 | ambiguous | 0.3645 | ambiguous | -1.629 | Destabilizing | 0.983 | D | 0.581 | neutral | None | None | None | None | N |
| D/T | 0.5604 | ambiguous | 0.5657 | pathogenic | -1.281 | Destabilizing | 0.995 | D | 0.759 | deleterious | None | None | None | None | N |
| D/V | 0.3981 | ambiguous | 0.3944 | ambiguous | 0.245 | Stabilizing | 0.997 | D | 0.807 | deleterious | N | 0.476724382 | None | None | N |
| D/W | 0.9716 | likely_pathogenic | 0.967 | pathogenic | -0.134 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| D/Y | 0.5333 | ambiguous | 0.4943 | ambiguous | 0.036 | Stabilizing | 1.0 | D | 0.786 | deleterious | N | 0.521188552 | 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.