Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3730 | 11413;11414;11415 | chr2:178756288;178756287;178756286 | chr2:179621015;179621014;179621013 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | 3559 | 10900;10901;10902 | chr2:178756288;178756287;178756286 | chr2:179621015;179621014;179621013 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | None | None | None | None | None | 0.802 | None | gnomAD-4.0.0 | 1.20043E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31262E-06 | 0 | 0 |
| Y/H | None | None | None | None | None | 0.596 | None | gnomAD-4.0.0 | 3.60122E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.93779E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9907 | likely_pathogenic | None | None | -2.18 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/C | 0.8983 | likely_pathogenic | None | None | -0.961 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/D | 0.9928 | likely_pathogenic | None | None | -2.941 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/E | 0.9964 | likely_pathogenic | None | None | -2.7 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/F | 0.2011 | likely_benign | None | None | -0.772 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/G | 0.9842 | likely_pathogenic | None | None | -2.612 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/H | 0.9259 | likely_pathogenic | None | None | -2.176 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/I | 0.8866 | likely_pathogenic | None | None | -0.742 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/K | 0.9951 | likely_pathogenic | None | None | -1.55 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/L | 0.7859 | likely_pathogenic | None | None | -0.742 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/M | 0.9753 | likely_pathogenic | None | None | -0.677 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/N | 0.97 | likely_pathogenic | None | None | -2.468 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/P | 0.9946 | likely_pathogenic | None | None | -1.238 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/Q | 0.9948 | likely_pathogenic | None | None | -2.028 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/R | 0.9804 | likely_pathogenic | None | None | -1.914 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/S | 0.9736 | likely_pathogenic | None | None | -2.653 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/T | 0.9902 | likely_pathogenic | None | None | -2.266 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/V | 0.8658 | likely_pathogenic | None | None | -1.238 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/W | 0.8223 | likely_pathogenic | None | None | -0.183 | Destabilizing | None | None | None | None | 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.