Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3191 | 9796;9797;9798 | chr2:178766513;178766512;178766511 | chr2:179631240;179631239;179631238 |
| N2AB | 3191 | 9796;9797;9798 | chr2:178766513;178766512;178766511 | chr2:179631240;179631239;179631238 |
| N2A | 3191 | 9796;9797;9798 | chr2:178766513;178766512;178766511 | chr2:179631240;179631239;179631238 |
| N2B | 3145 | 9658;9659;9660 | chr2:178766513;178766512;178766511 | chr2:179631240;179631239;179631238 |
| Novex-1 | 3145 | 9658;9659;9660 | chr2:178766513;178766512;178766511 | chr2:179631240;179631239;179631238 |
| Novex-2 | 3145 | 9658;9659;9660 | chr2:178766513;178766512;178766511 | chr2:179631240;179631239;179631238 |
| Novex-3 | 3191 | 9796;9797;9798 | chr2:178766513;178766512;178766511 | chr2:179631240;179631239;179631238 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | rs33997263  |
-0.627 | None | N | 0.086 | 0.092 | None | gnomAD-2.1.1 | 8.5E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.10464E-03 | None | 6.53E-05 | None | 0 | 0 | 0 |
| Q/E | rs33997263 |
-0.627 | None | N | 0.086 | 0.092 | None | gnomAD-3.1.2 | 8.54E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 2.31214E-03 | None | 0 | 0 | 0 | 2.07641E-04 | 0 |
| Q/E | rs33997263 |
-0.627 | None | N | 0.086 | 0.092 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| Q/E | rs33997263 |
-0.627 | None | N | 0.086 | 0.092 | None | gnomAD-4.0.0 | 2.72603E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 7.80309E-04 | None | 0 | 0 | 0 | 4.39223E-05 | 7.99923E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2521 | likely_benign | 0.241 | benign | -0.722 | Destabilizing | 0.345 | N | 0.301 | neutral | None | None | None | None | N |
| Q/C | 0.8697 | likely_pathogenic | 0.8864 | pathogenic | -0.007 | Destabilizing | 0.991 | D | 0.387 | neutral | None | None | None | None | N |
| Q/D | 0.3207 | likely_benign | 0.3352 | benign | -0.723 | Destabilizing | 0.001 | N | 0.085 | neutral | None | None | None | None | N |
| Q/E | 0.055 | likely_benign | 0.0592 | benign | -0.59 | Destabilizing | None | N | 0.086 | neutral | N | 0.312974989 | None | None | N |
| Q/F | 0.8226 | likely_pathogenic | 0.8636 | pathogenic | -0.258 | Destabilizing | 0.965 | D | 0.421 | neutral | None | None | None | None | N |
| Q/G | 0.2905 | likely_benign | 0.309 | benign | -1.12 | Destabilizing | 0.345 | N | 0.327 | neutral | None | None | None | None | N |
| Q/H | 0.389 | ambiguous | 0.3978 | ambiguous | -0.947 | Destabilizing | 0.873 | D | 0.299 | neutral | N | 0.343092952 | None | None | N |
| Q/I | 0.5509 | ambiguous | 0.6052 | pathogenic | 0.317 | Stabilizing | 0.901 | D | 0.483 | neutral | None | None | None | None | N |
| Q/K | 0.1512 | likely_benign | 0.1875 | benign | -0.559 | Destabilizing | 0.166 | N | 0.237 | neutral | N | 0.341449867 | None | None | N |
| Q/L | 0.199 | likely_benign | 0.2251 | benign | 0.317 | Stabilizing | 0.491 | N | 0.309 | neutral | N | 0.343092952 | None | None | N |
| Q/M | 0.4465 | ambiguous | 0.4617 | ambiguous | 0.734 | Stabilizing | 0.965 | D | 0.306 | neutral | None | None | None | None | N |
| Q/N | 0.3234 | likely_benign | 0.3093 | benign | -1.098 | Destabilizing | 0.345 | N | 0.216 | neutral | None | None | None | None | N |
| Q/P | 0.2352 | likely_benign | 0.2342 | benign | 0.002 | Stabilizing | 0.662 | D | 0.343 | neutral | N | 0.341065978 | None | None | N |
| Q/R | 0.1849 | likely_benign | 0.2438 | benign | -0.573 | Destabilizing | 0.491 | N | 0.22 | neutral | N | 0.342436672 | None | None | N |
| Q/S | 0.2685 | likely_benign | 0.2535 | benign | -1.197 | Destabilizing | 0.345 | N | 0.242 | neutral | None | None | None | None | N |
| Q/T | 0.2549 | likely_benign | 0.2427 | benign | -0.866 | Destabilizing | 0.345 | N | 0.313 | neutral | None | None | None | None | N |
| Q/V | 0.3849 | ambiguous | 0.4039 | ambiguous | 0.002 | Stabilizing | 0.722 | D | 0.323 | neutral | None | None | None | None | N |
| Q/W | 0.7275 | likely_pathogenic | 0.8119 | pathogenic | -0.187 | Destabilizing | 0.991 | D | 0.369 | neutral | None | None | None | None | N |
| Q/Y | 0.6765 | likely_pathogenic | 0.7313 | pathogenic | 0.029 | Stabilizing | 0.965 | D | 0.401 | neutral | 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.