Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3992 | 12199;12200;12201 | chr2:178741259;178741258;178741257 | chr2:179605986;179605985;179605984 |
| N2AB | 3675 | 11248;11249;11250 | chr2:178741259;178741258;178741257 | chr2:179605986;179605985;179605984 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 3629 | 11110;11111;11112 | chr2:178741259;178741258;178741257 | chr2:179605986;179605985;179605984 |
| Novex-1 | 3754 | 11485;11486;11487 | chr2:178741259;178741258;178741257 | chr2:179605986;179605985;179605984 |
| Novex-2 | 3821 | 11686;11687;11688 | chr2:178741259;178741258;178741257 | chr2:179605986;179605985;179605984 |
| 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/S | rs774085575  |
-1.386 | 1.0 | D | 0.775 | 0.454 | None | gnomAD-2.1.1 | 2.14E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 3.13E-05 | 1.40568E-04 |
| G/S | rs774085575 |
-1.386 | 1.0 | D | 0.775 | 0.454 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 3.16456E-03 | 0 | 0 | 0 |
| G/S | rs774085575 |
-1.386 | 1.0 | D | 0.775 | 0.454 | None | gnomAD-4.0.0 | 1.7972E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.64366E-04 | 2.03418E-05 | 4.39136E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3435 | ambiguous | 0.3523 | ambiguous | -0.794 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | D | 0.607419393 | None | None | N |
| G/C | 0.3985 | ambiguous | 0.3932 | ambiguous | -1.014 | Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.697646595 | None | None | N |
| G/D | 0.4447 | ambiguous | 0.4402 | ambiguous | -1.965 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.544757779 | None | None | N |
| G/E | 0.5004 | ambiguous | 0.5057 | ambiguous | -2.015 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/F | 0.8081 | likely_pathogenic | 0.7924 | pathogenic | -1.245 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/H | 0.5938 | likely_pathogenic | 0.5883 | pathogenic | -1.555 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/I | 0.6975 | likely_pathogenic | 0.6892 | pathogenic | -0.391 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| G/K | 0.628 | likely_pathogenic | 0.6342 | pathogenic | -1.375 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| G/L | 0.7477 | likely_pathogenic | 0.7514 | pathogenic | -0.391 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| G/M | 0.801 | likely_pathogenic | 0.8052 | pathogenic | -0.21 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| G/N | 0.4655 | ambiguous | 0.4732 | ambiguous | -1.134 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/P | 0.9781 | likely_pathogenic | 0.9752 | pathogenic | -0.486 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/Q | 0.5463 | ambiguous | 0.5538 | ambiguous | -1.341 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| G/R | 0.4253 | ambiguous | 0.42 | ambiguous | -1.039 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.607664883 | None | None | N |
| G/S | 0.1937 | likely_benign | 0.1967 | benign | -1.288 | Destabilizing | 1.0 | D | 0.775 | deleterious | D | 0.545431868 | None | None | N |
| G/T | 0.5116 | ambiguous | 0.5105 | ambiguous | -1.273 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| G/V | 0.6174 | likely_pathogenic | 0.6088 | pathogenic | -0.486 | Destabilizing | 1.0 | D | 0.816 | deleterious | D | 0.667373676 | None | None | N |
| G/W | 0.7072 | likely_pathogenic | 0.6716 | pathogenic | -1.678 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| G/Y | 0.6594 | likely_pathogenic | 0.6417 | pathogenic | -1.256 | Destabilizing | 1.0 | D | 0.793 | 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.