Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21804 | 65635;65636;65637 | chr2:178583772;178583771;178583770 | chr2:179448499;179448498;179448497 |
| N2AB | 20163 | 60712;60713;60714 | chr2:178583772;178583771;178583770 | chr2:179448499;179448498;179448497 |
| N2A | 19236 | 57931;57932;57933 | chr2:178583772;178583771;178583770 | chr2:179448499;179448498;179448497 |
| N2B | 12739 | 38440;38441;38442 | chr2:178583772;178583771;178583770 | chr2:179448499;179448498;179448497 |
| Novex-1 | 12864 | 38815;38816;38817 | chr2:178583772;178583771;178583770 | chr2:179448499;179448498;179448497 |
| Novex-2 | 12931 | 39016;39017;39018 | chr2:178583772;178583771;178583770 | chr2:179448499;179448498;179448497 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | None | None | 1.0 | N | 0.753 | 0.548 | 0.762877788922 | gnomAD-4.0.0 | 3.19517E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.41663E-04 | 2.86742E-06 | 0 | 0 |
| W/R | rs745626132  |
-1.146 | 1.0 | D | 0.806 | 0.671 | 0.785498644175 | gnomAD-2.1.1 | 2.86E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.00229E-04 | None | 0 | None | 0 | 0 | 0 |
| W/R | rs745626132 |
-1.146 | 1.0 | D | 0.806 | 0.671 | 0.785498644175 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94024E-04 | None | 0 | 0 | 0 | 0 | 0 |
| W/R | rs745626132 |
-1.146 | 1.0 | D | 0.806 | 0.671 | 0.785498644175 | gnomAD-4.0.0 | 6.8532E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.1652E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9873 | likely_pathogenic | 0.9859 | pathogenic | -2.703 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| W/C | 0.9976 | likely_pathogenic | 0.9971 | pathogenic | -0.864 | Destabilizing | 1.0 | D | 0.753 | deleterious | N | 0.508630933 | None | None | N |
| W/D | 0.9952 | likely_pathogenic | 0.9959 | pathogenic | -1.022 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| W/E | 0.9974 | likely_pathogenic | 0.9976 | pathogenic | -0.97 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| W/F | 0.6771 | likely_pathogenic | 0.6535 | pathogenic | -1.78 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| W/G | 0.966 | likely_pathogenic | 0.9619 | pathogenic | -2.895 | Highly Destabilizing | 1.0 | D | 0.699 | prob.neutral | D | 0.539710881 | None | None | N |
| W/H | 0.992 | likely_pathogenic | 0.9915 | pathogenic | -1.264 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| W/I | 0.9853 | likely_pathogenic | 0.9815 | pathogenic | -2.034 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| W/K | 0.9991 | likely_pathogenic | 0.9989 | pathogenic | -1.053 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| W/L | 0.9678 | likely_pathogenic | 0.9632 | pathogenic | -2.034 | Highly Destabilizing | 1.0 | D | 0.699 | prob.neutral | N | 0.520846158 | None | None | N |
| W/M | 0.9896 | likely_pathogenic | 0.9862 | pathogenic | -1.416 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| W/N | 0.9954 | likely_pathogenic | 0.9955 | pathogenic | -1.243 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| W/P | 0.9804 | likely_pathogenic | 0.9869 | pathogenic | -2.268 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| W/Q | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -1.298 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| W/R | 0.9984 | likely_pathogenic | 0.9981 | pathogenic | -0.452 | Destabilizing | 1.0 | D | 0.806 | deleterious | D | 0.528861555 | None | None | N |
| W/S | 0.9862 | likely_pathogenic | 0.9857 | pathogenic | -1.754 | Destabilizing | 1.0 | D | 0.808 | deleterious | N | 0.515312749 | None | None | N |
| W/T | 0.989 | likely_pathogenic | 0.988 | pathogenic | -1.654 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| W/V | 0.985 | likely_pathogenic | 0.9817 | pathogenic | -2.268 | Highly Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| W/Y | 0.8669 | likely_pathogenic | 0.8525 | pathogenic | -1.619 | Destabilizing | 1.0 | D | 0.624 | neutral | 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.