Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1919 | 5980;5981;5982 | chr2:178776109;178776108;178776107 | chr2:179640836;179640835;179640834 |
| N2AB | 1919 | 5980;5981;5982 | chr2:178776109;178776108;178776107 | chr2:179640836;179640835;179640834 |
| N2A | 1919 | 5980;5981;5982 | chr2:178776109;178776108;178776107 | chr2:179640836;179640835;179640834 |
| N2B | 1873 | 5842;5843;5844 | chr2:178776109;178776108;178776107 | chr2:179640836;179640835;179640834 |
| Novex-1 | 1873 | 5842;5843;5844 | chr2:178776109;178776108;178776107 | chr2:179640836;179640835;179640834 |
| Novex-2 | 1873 | 5842;5843;5844 | chr2:178776109;178776108;178776107 | chr2:179640836;179640835;179640834 |
| Novex-3 | 1919 | 5980;5981;5982 | chr2:178776109;178776108;178776107 | chr2:179640836;179640835;179640834 |
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/D | None | None | 1.0 | D | 0.873 | 0.669 | 0.274366138417 | gnomAD-4.0.0 | 6.36207E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.56976E-06 | 0 | 3.02151E-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 | 0.7949 | likely_pathogenic | 0.8906 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.759 | deleterious | D | 0.622688657 | None | None | I |
| G/C | 0.9753 | likely_pathogenic | 0.9899 | pathogenic | -0.922 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.737167151 | None | None | I |
| G/D | 0.9648 | likely_pathogenic | 0.9878 | pathogenic | -1.119 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.648282415 | None | None | I |
| G/E | 0.9795 | likely_pathogenic | 0.9921 | pathogenic | -1.263 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/F | 0.9965 | likely_pathogenic | 0.9983 | pathogenic | -1.158 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | I |
| G/H | 0.9964 | likely_pathogenic | 0.9987 | pathogenic | -0.939 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/I | 0.9945 | likely_pathogenic | 0.998 | pathogenic | -0.586 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| G/K | 0.9967 | likely_pathogenic | 0.9986 | pathogenic | -1.3 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/L | 0.9941 | likely_pathogenic | 0.9974 | pathogenic | -0.586 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/M | 0.9943 | likely_pathogenic | 0.9976 | pathogenic | -0.533 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | I |
| G/N | 0.9794 | likely_pathogenic | 0.9909 | pathogenic | -0.899 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/P | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -0.548 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/Q | 0.9917 | likely_pathogenic | 0.9965 | pathogenic | -1.196 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/R | 0.9924 | likely_pathogenic | 0.9968 | pathogenic | -0.772 | Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.66396626 | None | None | I |
| G/S | 0.8202 | likely_pathogenic | 0.9111 | pathogenic | -0.999 | Destabilizing | 1.0 | D | 0.814 | deleterious | D | 0.61431655 | None | None | I |
| G/T | 0.9632 | likely_pathogenic | 0.9852 | pathogenic | -1.086 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/V | 0.9853 | likely_pathogenic | 0.9946 | pathogenic | -0.548 | Destabilizing | 1.0 | D | 0.852 | deleterious | D | 0.737061198 | None | None | I |
| G/W | 0.9951 | likely_pathogenic | 0.9979 | pathogenic | -1.363 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/Y | 0.9926 | likely_pathogenic | 0.9968 | pathogenic | -1.037 | Destabilizing | 1.0 | D | 0.855 | deleterious | 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.