Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29174 | 87745;87746;87747 | chr2:178557834;178557833;178557832 | chr2:179422561;179422560;179422559 |
| N2AB | 27533 | 82822;82823;82824 | chr2:178557834;178557833;178557832 | chr2:179422561;179422560;179422559 |
| N2A | 26606 | 80041;80042;80043 | chr2:178557834;178557833;178557832 | chr2:179422561;179422560;179422559 |
| N2B | 20109 | 60550;60551;60552 | chr2:178557834;178557833;178557832 | chr2:179422561;179422560;179422559 |
| Novex-1 | 20234 | 60925;60926;60927 | chr2:178557834;178557833;178557832 | chr2:179422561;179422560;179422559 |
| Novex-2 | 20301 | 61126;61127;61128 | chr2:178557834;178557833;178557832 | chr2:179422561;179422560;179422559 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/V | rs1309415866  |
None | 0.993 | N | 0.436 | 0.186 | 0.503559190036 | gnomAD-4.0.0 | 1.59103E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85785E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.8078 | likely_pathogenic | 0.8858 | pathogenic | -2.581 | Highly Destabilizing | 0.999 | D | 0.647 | neutral | None | None | None | None | N |
| I/C | 0.7881 | likely_pathogenic | 0.853 | pathogenic | -1.95 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| I/D | 0.9751 | likely_pathogenic | 0.9866 | pathogenic | -2.977 | Highly Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| I/E | 0.942 | likely_pathogenic | 0.9653 | pathogenic | -2.838 | Highly Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| I/F | 0.3349 | likely_benign | 0.4449 | ambiguous | -1.626 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.479989612 | None | None | N |
| I/G | 0.9517 | likely_pathogenic | 0.9734 | pathogenic | -3.037 | Highly Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| I/H | 0.7548 | likely_pathogenic | 0.8294 | pathogenic | -2.358 | Highly Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| I/K | 0.8059 | likely_pathogenic | 0.8433 | pathogenic | -2.081 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| I/L | 0.2095 | likely_benign | 0.2577 | benign | -1.296 | Destabilizing | 0.993 | D | 0.455 | neutral | N | 0.471480462 | None | None | N |
| I/M | 0.2401 | likely_benign | 0.3039 | benign | -1.199 | Destabilizing | 1.0 | D | 0.758 | deleterious | N | 0.507248126 | None | None | N |
| I/N | 0.7057 | likely_pathogenic | 0.8029 | pathogenic | -2.239 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | N | 0.482823541 | None | None | N |
| I/P | 0.9931 | likely_pathogenic | 0.9956 | pathogenic | -1.703 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| I/Q | 0.8127 | likely_pathogenic | 0.8625 | pathogenic | -2.26 | Highly Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| I/R | 0.7014 | likely_pathogenic | 0.7574 | pathogenic | -1.542 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| I/S | 0.6815 | likely_pathogenic | 0.7852 | pathogenic | -2.867 | Highly Destabilizing | 1.0 | D | 0.718 | prob.delet. | N | 0.468389362 | None | None | N |
| I/T | 0.5665 | likely_pathogenic | 0.713 | pathogenic | -2.608 | Highly Destabilizing | 1.0 | D | 0.731 | prob.delet. | N | 0.503490707 | None | None | N |
| I/V | 0.094 | likely_benign | 0.1102 | benign | -1.703 | Destabilizing | 0.993 | D | 0.436 | neutral | N | 0.512264905 | None | None | N |
| I/W | 0.9137 | likely_pathogenic | 0.9421 | pathogenic | -1.948 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| I/Y | 0.7052 | likely_pathogenic | 0.781 | pathogenic | -1.728 | Destabilizing | 1.0 | D | 0.767 | 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.