Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1643 | 5152;5153;5154 | chr2:178776937;178776936;178776935 | chr2:179641664;179641663;179641662 |
| N2AB | 1643 | 5152;5153;5154 | chr2:178776937;178776936;178776935 | chr2:179641664;179641663;179641662 |
| N2A | 1643 | 5152;5153;5154 | chr2:178776937;178776936;178776935 | chr2:179641664;179641663;179641662 |
| N2B | 1597 | 5014;5015;5016 | chr2:178776937;178776936;178776935 | chr2:179641664;179641663;179641662 |
| Novex-1 | 1597 | 5014;5015;5016 | chr2:178776937;178776936;178776935 | chr2:179641664;179641663;179641662 |
| Novex-2 | 1597 | 5014;5015;5016 | chr2:178776937;178776936;178776935 | chr2:179641664;179641663;179641662 |
| Novex-3 | 1643 | 5152;5153;5154 | chr2:178776937;178776936;178776935 | chr2:179641664;179641663;179641662 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | None | None | 1.0 | D | 0.913 | 0.792 | 0.889711523711 | gnomAD-4.0.0 | 1.59166E-06 | None | None | None | None | N | None | 0 | 2.28917E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7741 | likely_pathogenic | 0.7531 | pathogenic | -1.952 | Destabilizing | 0.998 | D | 0.552 | neutral | None | None | None | None | N |
| C/D | 0.9989 | likely_pathogenic | 0.9986 | pathogenic | -1.488 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| C/E | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -1.282 | Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | N |
| C/F | 0.8048 | likely_pathogenic | 0.7901 | pathogenic | -1.226 | Destabilizing | 1.0 | D | 0.893 | deleterious | N | 0.507070383 | None | None | N |
| C/G | 0.6276 | likely_pathogenic | 0.6037 | pathogenic | -2.311 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | N | 0.51133554 | None | None | N |
| C/H | 0.9954 | likely_pathogenic | 0.9937 | pathogenic | -2.433 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| C/I | 0.9433 | likely_pathogenic | 0.9326 | pathogenic | -0.983 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| C/K | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -1.465 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| C/L | 0.9058 | likely_pathogenic | 0.8962 | pathogenic | -0.983 | Destabilizing | 0.999 | D | 0.645 | neutral | None | None | None | None | N |
| C/M | 0.9538 | likely_pathogenic | 0.9433 | pathogenic | 0.153 | Stabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| C/N | 0.9915 | likely_pathogenic | 0.9876 | pathogenic | -1.896 | Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | N |
| C/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.284 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| C/Q | 0.9968 | likely_pathogenic | 0.9954 | pathogenic | -1.523 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| C/R | 0.995 | likely_pathogenic | 0.9931 | pathogenic | -1.656 | Destabilizing | 1.0 | D | 0.913 | deleterious | D | 0.653486801 | None | None | N |
| C/S | 0.8205 | likely_pathogenic | 0.7977 | pathogenic | -2.291 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | N | 0.501357637 | None | None | N |
| C/T | 0.9313 | likely_pathogenic | 0.9145 | pathogenic | -1.901 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| C/V | 0.8568 | likely_pathogenic | 0.839 | pathogenic | -1.284 | Destabilizing | 0.999 | D | 0.726 | prob.delet. | None | None | None | None | N |
| C/W | 0.985 | likely_pathogenic | 0.9815 | pathogenic | -1.52 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.653962929 | None | None | N |
| C/Y | 0.9556 | likely_pathogenic | 0.948 | pathogenic | -1.406 | Destabilizing | 1.0 | D | 0.896 | deleterious | N | 0.507807706 | 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.