Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30871 | 92836;92837;92838 | chr2:178549015;178549014;178549013 | chr2:179413742;179413741;179413740 |
| N2AB | 29230 | 87913;87914;87915 | chr2:178549015;178549014;178549013 | chr2:179413742;179413741;179413740 |
| N2A | 28303 | 85132;85133;85134 | chr2:178549015;178549014;178549013 | chr2:179413742;179413741;179413740 |
| N2B | 21806 | 65641;65642;65643 | chr2:178549015;178549014;178549013 | chr2:179413742;179413741;179413740 |
| Novex-1 | 21931 | 66016;66017;66018 | chr2:178549015;178549014;178549013 | chr2:179413742;179413741;179413740 |
| Novex-2 | 21998 | 66217;66218;66219 | chr2:178549015;178549014;178549013 | chr2:179413742;179413741;179413740 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs756610221  |
-1.702 | 0.998 | N | 0.483 | 0.299 | 0.486352402194 | gnomAD-2.1.1 | 4.82E-05 | None | None | None | None | N | None | 0 | 3.18693E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65618E-04 |
| V/A | rs756610221 |
-1.702 | 0.998 | N | 0.483 | 0.299 | 0.486352402194 | gnomAD-4.0.0 | 2.06839E-05 | None | None | None | None | N | None | 0 | 2.97265E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | None | None | 0.999 | N | 0.696 | 0.262 | 0.354396617058 | gnomAD-4.0.0 | 1.59105E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02371E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3328 | likely_benign | 0.317 | benign | -1.648 | Destabilizing | 0.998 | D | 0.483 | neutral | N | 0.496287015 | None | None | N |
| V/C | 0.8121 | likely_pathogenic | 0.8041 | pathogenic | -1.023 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| V/D | 0.8812 | likely_pathogenic | 0.8445 | pathogenic | -1.703 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| V/E | 0.8073 | likely_pathogenic | 0.7542 | pathogenic | -1.624 | Destabilizing | 1.0 | D | 0.797 | deleterious | N | 0.492144568 | None | None | N |
| V/F | 0.5289 | ambiguous | 0.4852 | ambiguous | -1.183 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| V/G | 0.486 | ambiguous | 0.4525 | ambiguous | -2.038 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | N | 0.492651547 | None | None | N |
| V/H | 0.9428 | likely_pathogenic | 0.928 | pathogenic | -1.577 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| V/I | 0.1014 | likely_benign | 0.0989 | benign | -0.642 | Destabilizing | 0.813 | D | 0.314 | neutral | None | None | None | None | N |
| V/K | 0.8574 | likely_pathogenic | 0.8238 | pathogenic | -1.43 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| V/L | 0.474 | ambiguous | 0.4317 | ambiguous | -0.642 | Destabilizing | 0.981 | D | 0.401 | neutral | N | 0.506655937 | None | None | N |
| V/M | 0.3611 | ambiguous | 0.3277 | benign | -0.464 | Destabilizing | 0.999 | D | 0.696 | prob.neutral | N | 0.476762565 | None | None | N |
| V/N | 0.8016 | likely_pathogenic | 0.7663 | pathogenic | -1.398 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| V/P | 0.8607 | likely_pathogenic | 0.8876 | pathogenic | -0.944 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| V/Q | 0.8326 | likely_pathogenic | 0.7969 | pathogenic | -1.453 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| V/R | 0.834 | likely_pathogenic | 0.8067 | pathogenic | -0.988 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| V/S | 0.633 | likely_pathogenic | 0.5943 | pathogenic | -1.927 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| V/T | 0.5137 | ambiguous | 0.469 | ambiguous | -1.723 | Destabilizing | 0.998 | D | 0.591 | neutral | None | None | None | None | N |
| V/W | 0.9701 | likely_pathogenic | 0.9623 | pathogenic | -1.497 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| V/Y | 0.877 | likely_pathogenic | 0.8519 | pathogenic | -1.148 | Destabilizing | 1.0 | D | 0.823 | 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.