Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33003 | 99232;99233;99234 | chr2:178538822;178538821;178538820 | chr2:179403549;179403548;179403547 |
| N2AB | 31362 | 94309;94310;94311 | chr2:178538822;178538821;178538820 | chr2:179403549;179403548;179403547 |
| N2A | 30435 | 91528;91529;91530 | chr2:178538822;178538821;178538820 | chr2:179403549;179403548;179403547 |
| N2B | 23938 | 72037;72038;72039 | chr2:178538822;178538821;178538820 | chr2:179403549;179403548;179403547 |
| Novex-1 | 24063 | 72412;72413;72414 | chr2:178538822;178538821;178538820 | chr2:179403549;179403548;179403547 |
| Novex-2 | 24130 | 72613;72614;72615 | chr2:178538822;178538821;178538820 | chr2:179403549;179403548;179403547 |
| 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/E | rs775787996  |
-2.11 | 1.0 | N | 0.877 | 0.391 | 0.458734620958 | gnomAD-2.1.1 | 4.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.37E-05 | None | 0 | 0 | 0 |
| G/E | rs775787996 |
-2.11 | 1.0 | N | 0.877 | 0.391 | 0.458734620958 | gnomAD-4.0.0 | 1.37369E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.0198E-07 | 1.17222E-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 | 0.2129 | likely_benign | 0.2139 | benign | -0.86 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | N | 0.470141017 | None | None | N |
| G/C | 0.4573 | ambiguous | 0.4426 | ambiguous | -1.024 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| G/D | 0.5973 | likely_pathogenic | 0.5852 | pathogenic | -1.955 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/E | 0.4722 | ambiguous | 0.4757 | ambiguous | -1.967 | Destabilizing | 1.0 | D | 0.877 | deleterious | N | 0.52117239 | None | None | N |
| G/F | 0.8753 | likely_pathogenic | 0.8771 | pathogenic | -1.048 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| G/H | 0.7845 | likely_pathogenic | 0.7821 | pathogenic | -1.74 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| G/I | 0.7186 | likely_pathogenic | 0.7304 | pathogenic | -0.332 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/K | 0.6589 | likely_pathogenic | 0.6643 | pathogenic | -1.702 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| G/L | 0.7052 | likely_pathogenic | 0.7025 | pathogenic | -0.332 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/M | 0.7597 | likely_pathogenic | 0.7698 | pathogenic | -0.257 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| G/N | 0.6281 | likely_pathogenic | 0.6242 | pathogenic | -1.428 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| G/P | 0.9668 | likely_pathogenic | 0.9688 | pathogenic | -0.467 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| G/Q | 0.5662 | likely_pathogenic | 0.5719 | pathogenic | -1.552 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| G/R | 0.5066 | ambiguous | 0.5044 | ambiguous | -1.387 | Destabilizing | 1.0 | D | 0.877 | deleterious | N | 0.495487299 | None | None | N |
| G/S | 0.1673 | likely_benign | 0.1668 | benign | -1.603 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| G/T | 0.3925 | ambiguous | 0.3912 | ambiguous | -1.546 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| G/V | 0.5253 | ambiguous | 0.5414 | ambiguous | -0.467 | Destabilizing | 1.0 | D | 0.863 | deleterious | N | 0.478561261 | None | None | N |
| G/W | 0.7873 | likely_pathogenic | 0.7862 | pathogenic | -1.563 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| G/Y | 0.8203 | likely_pathogenic | 0.8213 | pathogenic | -1.136 | Destabilizing | 1.0 | D | 0.829 | 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.