Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2949 | 9070;9071;9072 | chr2:178769736;178769735;178769734 | chr2:179634463;179634462;179634461 |
| N2AB | 2949 | 9070;9071;9072 | chr2:178769736;178769735;178769734 | chr2:179634463;179634462;179634461 |
| N2A | 2949 | 9070;9071;9072 | chr2:178769736;178769735;178769734 | chr2:179634463;179634462;179634461 |
| N2B | 2903 | 8932;8933;8934 | chr2:178769736;178769735;178769734 | chr2:179634463;179634462;179634461 |
| Novex-1 | 2903 | 8932;8933;8934 | chr2:178769736;178769735;178769734 | chr2:179634463;179634462;179634461 |
| Novex-2 | 2903 | 8932;8933;8934 | chr2:178769736;178769735;178769734 | chr2:179634463;179634462;179634461 |
| Novex-3 | 2949 | 9070;9071;9072 | chr2:178769736;178769735;178769734 | chr2:179634463;179634462;179634461 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | None | None | 1.0 | N | 0.768 | 0.477 | 0.379020345274 | gnomAD-4.0.0 | 1.59075E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8108 | likely_pathogenic | 0.8085 | pathogenic | -1.105 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| A/D | 0.7866 | likely_pathogenic | 0.775 | pathogenic | -1.238 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| A/E | 0.8442 | likely_pathogenic | 0.826 | pathogenic | -1.232 | Destabilizing | 1.0 | D | 0.812 | deleterious | D | 0.636016606 | None | None | N |
| A/F | 0.9476 | likely_pathogenic | 0.9379 | pathogenic | -1.084 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| A/G | 0.1965 | likely_benign | 0.1889 | benign | -1.297 | Destabilizing | 1.0 | D | 0.752 | deleterious | N | 0.345427197 | None | None | N |
| A/H | 0.953 | likely_pathogenic | 0.9461 | pathogenic | -1.399 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| A/I | 0.9485 | likely_pathogenic | 0.9396 | pathogenic | -0.334 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| A/K | 0.9555 | likely_pathogenic | 0.9494 | pathogenic | -1.118 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| A/L | 0.8264 | likely_pathogenic | 0.7879 | pathogenic | -0.334 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| A/M | 0.7978 | likely_pathogenic | 0.7815 | pathogenic | -0.355 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| A/N | 0.8352 | likely_pathogenic | 0.8132 | pathogenic | -0.979 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| A/P | 0.9955 | likely_pathogenic | 0.9936 | pathogenic | -0.514 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.636016606 | None | None | N |
| A/Q | 0.8571 | likely_pathogenic | 0.8452 | pathogenic | -1.095 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| A/R | 0.9012 | likely_pathogenic | 0.8905 | pathogenic | -0.831 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| A/S | 0.1398 | likely_benign | 0.1376 | benign | -1.406 | Destabilizing | 1.0 | D | 0.768 | deleterious | N | 0.51644916 | None | None | N |
| A/T | 0.3854 | ambiguous | 0.3515 | ambiguous | -1.291 | Destabilizing | 1.0 | D | 0.834 | deleterious | D | 0.59252096 | None | None | N |
| A/V | 0.7468 | likely_pathogenic | 0.7128 | pathogenic | -0.514 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.636016606 | None | None | N |
| A/W | 0.9945 | likely_pathogenic | 0.9935 | pathogenic | -1.447 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| A/Y | 0.9732 | likely_pathogenic | 0.9687 | pathogenic | -1.006 | Destabilizing | 1.0 | D | 0.798 | 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.