Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22775 | 68548;68549;68550 | chr2:178578617;178578616;178578615 | chr2:179443344;179443343;179443342 |
| N2AB | 21134 | 63625;63626;63627 | chr2:178578617;178578616;178578615 | chr2:179443344;179443343;179443342 |
| N2A | 20207 | 60844;60845;60846 | chr2:178578617;178578616;178578615 | chr2:179443344;179443343;179443342 |
| N2B | 13710 | 41353;41354;41355 | chr2:178578617;178578616;178578615 | chr2:179443344;179443343;179443342 |
| Novex-1 | 13835 | 41728;41729;41730 | chr2:178578617;178578616;178578615 | chr2:179443344;179443343;179443342 |
| Novex-2 | 13902 | 41929;41930;41931 | chr2:178578617;178578616;178578615 | chr2:179443344;179443343;179443342 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | None | None | 1.0 | N | 0.829 | 0.55 | 0.732322575749 | gnomAD-4.0.0 | 2.40418E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62883E-06 | 0 | 0 |
| I/V | rs768713071  |
-1.367 | 0.993 | N | 0.391 | 0.278 | 0.529661991002 | gnomAD-2.1.1 | 8.16E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.8E-05 | 0 |
| I/V | rs768713071 |
-1.367 | 0.993 | N | 0.391 | 0.278 | 0.529661991002 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/V | rs768713071 |
-1.367 | 0.993 | N | 0.391 | 0.278 | 0.529661991002 | gnomAD-4.0.0 | 6.83411E-06 | None | None | None | None | I | None | 2.67415E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 7.64353E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9631 | likely_pathogenic | 0.9586 | pathogenic | -2.096 | Highly Destabilizing | 0.999 | D | 0.655 | neutral | None | None | None | None | I |
| I/C | 0.9727 | likely_pathogenic | 0.9699 | pathogenic | -1.234 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| I/D | 0.9982 | likely_pathogenic | 0.9989 | pathogenic | -1.782 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| I/E | 0.9944 | likely_pathogenic | 0.9957 | pathogenic | -1.723 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | I |
| I/F | 0.9094 | likely_pathogenic | 0.9302 | pathogenic | -1.44 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.525524328 | None | None | I |
| I/G | 0.996 | likely_pathogenic | 0.9964 | pathogenic | -2.492 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| I/H | 0.995 | likely_pathogenic | 0.9968 | pathogenic | -1.733 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| I/K | 0.9897 | likely_pathogenic | 0.9914 | pathogenic | -1.469 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | I |
| I/L | 0.3186 | likely_benign | 0.3217 | benign | -1.04 | Destabilizing | 0.993 | D | 0.406 | neutral | D | 0.526085139 | None | None | I |
| I/M | 0.5309 | ambiguous | 0.5475 | ambiguous | -0.741 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.539580112 | None | None | I |
| I/N | 0.9588 | likely_pathogenic | 0.9815 | pathogenic | -1.368 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.54059407 | None | None | I |
| I/P | 0.9652 | likely_pathogenic | 0.961 | pathogenic | -1.364 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | I |
| I/Q | 0.9917 | likely_pathogenic | 0.9937 | pathogenic | -1.5 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| I/R | 0.987 | likely_pathogenic | 0.9891 | pathogenic | -0.881 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| I/S | 0.9763 | likely_pathogenic | 0.9821 | pathogenic | -2.026 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.539833602 | None | None | I |
| I/T | 0.9488 | likely_pathogenic | 0.9436 | pathogenic | -1.846 | Destabilizing | 1.0 | D | 0.829 | deleterious | N | 0.519096001 | None | None | I |
| I/V | 0.0854 | likely_benign | 0.0746 | benign | -1.364 | Destabilizing | 0.993 | D | 0.391 | neutral | N | 0.461380299 | None | None | I |
| I/W | 0.9979 | likely_pathogenic | 0.9987 | pathogenic | -1.602 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| I/Y | 0.9894 | likely_pathogenic | 0.9932 | pathogenic | -1.373 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | I |
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.