Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16899 | 50920;50921;50922 | chr2:178611534;178611533;178611532 | chr2:179476261;179476260;179476259 |
| N2AB | 15258 | 45997;45998;45999 | chr2:178611534;178611533;178611532 | chr2:179476261;179476260;179476259 |
| N2A | 14331 | 43216;43217;43218 | chr2:178611534;178611533;178611532 | chr2:179476261;179476260;179476259 |
| N2B | 7834 | 23725;23726;23727 | chr2:178611534;178611533;178611532 | chr2:179476261;179476260;179476259 |
| Novex-1 | 7959 | 24100;24101;24102 | chr2:178611534;178611533;178611532 | chr2:179476261;179476260;179476259 |
| Novex-2 | 8026 | 24301;24302;24303 | chr2:178611534;178611533;178611532 | chr2:179476261;179476260;179476259 |
| 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/G | rs751513616  |
-2.982 | 1.0 | D | 0.683 | 0.641 | 0.768634633665 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| W/S | None | None | 1.0 | D | 0.77 | 0.597 | 0.870327102264 | gnomAD-4.0.0 | 3.18567E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72305E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9967 | likely_pathogenic | 0.9958 | pathogenic | -2.877 | Highly Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| W/C | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -1.115 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | D | 0.69037543 | None | None | N |
| W/D | 0.9992 | likely_pathogenic | 0.9988 | pathogenic | -1.569 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| W/E | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -1.504 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| W/F | 0.822 | likely_pathogenic | 0.8213 | pathogenic | -1.797 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| W/G | 0.9867 | likely_pathogenic | 0.9843 | pathogenic | -3.077 | Highly Destabilizing | 1.0 | D | 0.683 | prob.neutral | D | 0.661134425 | None | None | N |
| W/H | 0.9981 | likely_pathogenic | 0.9979 | pathogenic | -1.448 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| W/I | 0.9954 | likely_pathogenic | 0.9944 | pathogenic | -2.16 | Highly Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.406 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| W/L | 0.9862 | likely_pathogenic | 0.9853 | pathogenic | -2.16 | Highly Destabilizing | 1.0 | D | 0.683 | prob.neutral | D | 0.68458245 | None | None | N |
| W/M | 0.9957 | likely_pathogenic | 0.9952 | pathogenic | -1.542 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| W/N | 0.9991 | likely_pathogenic | 0.9987 | pathogenic | -1.711 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| W/P | 0.9972 | likely_pathogenic | 0.9957 | pathogenic | -2.415 | Highly Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.732 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| W/R | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -0.816 | Destabilizing | 1.0 | D | 0.762 | deleterious | D | 0.672771493 | None | None | N |
| W/S | 0.9965 | likely_pathogenic | 0.9955 | pathogenic | -2.154 | Highly Destabilizing | 1.0 | D | 0.77 | deleterious | D | 0.686946835 | None | None | N |
| W/T | 0.9973 | likely_pathogenic | 0.9967 | pathogenic | -2.04 | Highly Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| W/V | 0.9948 | likely_pathogenic | 0.994 | pathogenic | -2.415 | Highly Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| W/Y | 0.9431 | likely_pathogenic | 0.942 | pathogenic | -1.638 | Destabilizing | 1.0 | D | 0.6 | 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.