Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16768 | 50527;50528;50529 | chr2:178612109;178612108;178612107 | chr2:179476836;179476835;179476834 |
| N2AB | 15127 | 45604;45605;45606 | chr2:178612109;178612108;178612107 | chr2:179476836;179476835;179476834 |
| N2A | 14200 | 42823;42824;42825 | chr2:178612109;178612108;178612107 | chr2:179476836;179476835;179476834 |
| N2B | 7703 | 23332;23333;23334 | chr2:178612109;178612108;178612107 | chr2:179476836;179476835;179476834 |
| Novex-1 | 7828 | 23707;23708;23709 | chr2:178612109;178612108;178612107 | chr2:179476836;179476835;179476834 |
| Novex-2 | 7895 | 23908;23909;23910 | chr2:178612109;178612108;178612107 | chr2:179476836;179476835;179476834 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs750493696  |
-2.464 | 0.999 | N | 0.637 | 0.425 | 0.492681238296 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.29E-05 | None | 0 | 0 | 0 |
| V/A | rs750493696 |
-2.464 | 0.999 | N | 0.637 | 0.425 | 0.492681238296 | gnomAD-4.0.0 | 1.36993E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73913E-04 | 0 | 1.1616E-05 | 0 |
| V/I | rs563084506 |
-0.245 | 0.997 | N | 0.523 | 0.254 | 0.401185642668 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 6.48E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs563084506 |
-0.245 | 0.997 | N | 0.523 | 0.254 | 0.401185642668 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs563084506 |
-0.245 | 0.997 | N | 0.523 | 0.254 | 0.401185642668 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| V/I | rs563084506 |
-0.245 | 0.997 | N | 0.523 | 0.254 | 0.401185642668 | gnomAD-4.0.0 | 6.57454E-06 | None | None | None | None | N | None | 2.40651E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.7184 | likely_pathogenic | 0.7211 | pathogenic | -2.53 | Highly Destabilizing | 0.999 | D | 0.637 | neutral | N | 0.472647636 | None | None | N |
| V/C | 0.9409 | likely_pathogenic | 0.9417 | pathogenic | -2.352 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| V/D | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -3.652 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.711880449 | None | None | N |
| V/E | 0.9963 | likely_pathogenic | 0.9962 | pathogenic | -3.345 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| V/F | 0.915 | likely_pathogenic | 0.9273 | pathogenic | -1.375 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.620667437 | None | None | N |
| V/G | 0.9531 | likely_pathogenic | 0.9575 | pathogenic | -3.136 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.71112214 | None | None | N |
| V/H | 0.9987 | likely_pathogenic | 0.9989 | pathogenic | -3.009 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| V/I | 0.1252 | likely_benign | 0.1203 | benign | -0.763 | Destabilizing | 0.997 | D | 0.523 | neutral | N | 0.473647794 | None | None | N |
| V/K | 0.9967 | likely_pathogenic | 0.9968 | pathogenic | -2.174 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| V/L | 0.7165 | likely_pathogenic | 0.7494 | pathogenic | -0.763 | Destabilizing | 0.997 | D | 0.625 | neutral | N | 0.49939508 | None | None | N |
| V/M | 0.7051 | likely_pathogenic | 0.7544 | pathogenic | -1.142 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| V/N | 0.9968 | likely_pathogenic | 0.9968 | pathogenic | -2.851 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| V/P | 0.9986 | likely_pathogenic | 0.9983 | pathogenic | -1.334 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| V/Q | 0.9943 | likely_pathogenic | 0.9946 | pathogenic | -2.508 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| V/R | 0.9906 | likely_pathogenic | 0.9914 | pathogenic | -2.177 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| V/S | 0.9667 | likely_pathogenic | 0.9666 | pathogenic | -3.382 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| V/T | 0.8086 | likely_pathogenic | 0.8212 | pathogenic | -2.919 | Highly Destabilizing | 0.999 | D | 0.681 | prob.neutral | None | None | None | None | N |
| V/W | 0.9986 | likely_pathogenic | 0.9989 | pathogenic | -2.013 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| V/Y | 0.9941 | likely_pathogenic | 0.9953 | pathogenic | -1.729 | Destabilizing | 1.0 | D | 0.873 | 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.