Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19812 | 59659;59660;59661 | chr2:178592571;178592570;178592569 | chr2:179457298;179457297;179457296 |
| N2AB | 18171 | 54736;54737;54738 | chr2:178592571;178592570;178592569 | chr2:179457298;179457297;179457296 |
| N2A | 17244 | 51955;51956;51957 | chr2:178592571;178592570;178592569 | chr2:179457298;179457297;179457296 |
| N2B | 10747 | 32464;32465;32466 | chr2:178592571;178592570;178592569 | chr2:179457298;179457297;179457296 |
| Novex-1 | 10872 | 32839;32840;32841 | chr2:178592571;178592570;178592569 | chr2:179457298;179457297;179457296 |
| Novex-2 | 10939 | 33040;33041;33042 | chr2:178592571;178592570;178592569 | chr2:179457298;179457297;179457296 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 1.0 | D | 0.729 | 0.708 | 0.604058420995 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| G/R | None | None | 1.0 | D | 0.768 | 0.729 | 0.834012836507 | gnomAD-4.0.0 | 7.52761E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29715E-06 | 0 | 6.62691E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8876 | likely_pathogenic | 0.8901 | pathogenic | -0.395 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | D | 0.577394831 | None | None | I |
| G/C | 0.9921 | likely_pathogenic | 0.9924 | pathogenic | -0.773 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | I |
| G/D | 0.9957 | likely_pathogenic | 0.9957 | pathogenic | -0.792 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| G/E | 0.9981 | likely_pathogenic | 0.9981 | pathogenic | -0.885 | Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.625060024 | None | None | I |
| G/F | 0.9991 | likely_pathogenic | 0.9991 | pathogenic | -0.882 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | I |
| G/H | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -0.702 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | I |
| G/I | 0.9981 | likely_pathogenic | 0.9982 | pathogenic | -0.294 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | I |
| G/K | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.019 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | I |
| G/L | 0.9985 | likely_pathogenic | 0.9986 | pathogenic | -0.294 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | I |
| G/M | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -0.489 | Destabilizing | 1.0 | D | 0.67 | neutral | None | None | None | None | I |
| G/N | 0.9986 | likely_pathogenic | 0.9987 | pathogenic | -0.711 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| G/P | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -0.291 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | I |
| G/Q | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -0.905 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| G/R | 0.9985 | likely_pathogenic | 0.9986 | pathogenic | -0.619 | Destabilizing | 1.0 | D | 0.768 | deleterious | D | 0.628692501 | None | None | I |
| G/S | 0.9707 | likely_pathogenic | 0.9745 | pathogenic | -0.861 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| G/T | 0.9942 | likely_pathogenic | 0.9948 | pathogenic | -0.878 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| G/V | 0.994 | likely_pathogenic | 0.994 | pathogenic | -0.291 | Destabilizing | 1.0 | D | 0.747 | deleterious | D | 0.628692501 | None | None | I |
| G/W | 0.9983 | likely_pathogenic | 0.9985 | pathogenic | -1.159 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | None | I |
| G/Y | 0.9987 | likely_pathogenic | 0.9988 | pathogenic | -0.763 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | 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.