Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16575 | 49948;49949;49950 | chr2:178612998;178612997;178612996 | chr2:179477725;179477724;179477723 |
| N2AB | 14934 | 45025;45026;45027 | chr2:178612998;178612997;178612996 | chr2:179477725;179477724;179477723 |
| N2A | 14007 | 42244;42245;42246 | chr2:178612998;178612997;178612996 | chr2:179477725;179477724;179477723 |
| N2B | 7510 | 22753;22754;22755 | chr2:178612998;178612997;178612996 | chr2:179477725;179477724;179477723 |
| Novex-1 | 7635 | 23128;23129;23130 | chr2:178612998;178612997;178612996 | chr2:179477725;179477724;179477723 |
| Novex-2 | 7702 | 23329;23330;23331 | chr2:178612998;178612997;178612996 | chr2:179477725;179477724;179477723 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | None | None | 1.0 | D | 0.817 | 0.68 | 0.393775345888 | gnomAD-4.0.0 | 6.8461E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.1598E-05 | 0 |
| P/L | None | None | 1.0 | D | 0.9 | 0.724 | 0.794075965502 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| P/S | None | None | 1.0 | D | 0.841 | 0.62 | 0.364141725642 | gnomAD-4.0.0 | 6.8461E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99831E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9076 | likely_pathogenic | 0.9378 | pathogenic | -2.052 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.633911237 | None | None | N |
| P/C | 0.9958 | likely_pathogenic | 0.997 | pathogenic | -1.441 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/D | 0.9987 | likely_pathogenic | 0.9992 | pathogenic | -2.486 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| P/E | 0.9969 | likely_pathogenic | 0.9984 | pathogenic | -2.344 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| P/F | 0.9996 | likely_pathogenic | 0.9998 | pathogenic | -1.309 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| P/G | 0.9885 | likely_pathogenic | 0.992 | pathogenic | -2.525 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| P/H | 0.9973 | likely_pathogenic | 0.9986 | pathogenic | -2.22 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| P/I | 0.9968 | likely_pathogenic | 0.9981 | pathogenic | -0.768 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/K | 0.9986 | likely_pathogenic | 0.9993 | pathogenic | -1.853 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| P/L | 0.9819 | likely_pathogenic | 0.9897 | pathogenic | -0.768 | Destabilizing | 1.0 | D | 0.9 | deleterious | D | 0.742786743 | None | None | N |
| P/M | 0.9967 | likely_pathogenic | 0.9981 | pathogenic | -0.617 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| P/N | 0.9983 | likely_pathogenic | 0.9991 | pathogenic | -1.925 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| P/Q | 0.9964 | likely_pathogenic | 0.9982 | pathogenic | -1.9 | Destabilizing | 1.0 | D | 0.824 | deleterious | D | 0.697521469 | None | None | N |
| P/R | 0.9955 | likely_pathogenic | 0.9978 | pathogenic | -1.485 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.659011903 | None | None | N |
| P/S | 0.9863 | likely_pathogenic | 0.9929 | pathogenic | -2.498 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.579082672 | None | None | N |
| P/T | 0.9794 | likely_pathogenic | 0.9898 | pathogenic | -2.23 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.708879564 | None | None | N |
| P/V | 0.9886 | likely_pathogenic | 0.9924 | pathogenic | -1.166 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| P/W | 0.9997 | likely_pathogenic | 0.9999 | pathogenic | -1.765 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/Y | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -1.418 | Destabilizing | 1.0 | D | 0.894 | 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.