Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3697 | 11314;11315;11316 | chr2:178756387;178756386;178756385 | chr2:179621114;179621113;179621112 |
| 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 | 3526 | 10801;10802;10803 | chr2:178756387;178756386;178756385 | chr2:179621114;179621113;179621112 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs1266849106  |
None | None | None | None | 0.068 | None | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
| G/R | rs2086945307 |
None | None | None | None | 0.083 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs2086945307 |
None | None | None | None | 0.083 | None | gnomAD-4.0.0 | 2.56242E-06 | None | None | None | None | I | None | 1.69262E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.34005E-05 | 0 |
| G/S | None | None | None | None | None | 0.091 | None | gnomAD-4.0.0 | 1.59126E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02425E-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 | 0.2136 | likely_benign | None | None | -0.232 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/C | 0.3782 | ambiguous | None | None | -0.904 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/D | 0.1365 | likely_benign | None | None | -0.647 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/E | 0.1842 | likely_benign | None | None | -0.816 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/F | 0.7083 | likely_pathogenic | None | None | -1.022 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/H | 0.4615 | ambiguous | None | None | -0.349 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/I | 0.48 | ambiguous | None | None | -0.473 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/K | 0.3937 | ambiguous | None | None | -0.694 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/L | 0.6406 | likely_pathogenic | None | None | -0.473 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/M | 0.5975 | likely_pathogenic | None | None | -0.531 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/N | 0.2257 | likely_benign | None | None | -0.392 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/P | 0.9685 | likely_pathogenic | None | None | -0.365 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/Q | 0.3532 | ambiguous | None | None | -0.69 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/R | 0.3159 | likely_benign | None | None | -0.225 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/S | 0.1284 | likely_benign | None | None | -0.511 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/T | 0.2714 | likely_benign | None | None | -0.616 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/V | 0.3516 | ambiguous | None | None | -0.365 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/W | 0.5686 | likely_pathogenic | None | None | -1.135 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/Y | 0.4956 | ambiguous | None | None | -0.806 | Destabilizing | None | None | None | None | 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.