Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15167 | 45724;45725;45726 | chr2:178621219;178621218;178621217 | chr2:179485946;179485945;179485944 |
| N2AB | 13526 | 40801;40802;40803 | chr2:178621219;178621218;178621217 | chr2:179485946;179485945;179485944 |
| N2A | 12599 | 38020;38021;38022 | chr2:178621219;178621218;178621217 | chr2:179485946;179485945;179485944 |
| N2B | 6102 | 18529;18530;18531 | chr2:178621219;178621218;178621217 | chr2:179485946;179485945;179485944 |
| Novex-1 | 6227 | 18904;18905;18906 | chr2:178621219;178621218;178621217 | chr2:179485946;179485945;179485944 |
| Novex-2 | 6294 | 19105;19106;19107 | chr2:178621219;178621218;178621217 | chr2:179485946;179485945;179485944 |
| 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/I | rs183245562  |
-0.3 | None | N | 0.106 | 0.256 | None | gnomAD-2.1.1 | 2.61748E-04 | None | None | None | None | N | None | 2.60891E-03 | 1.42094E-04 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 2.36E-05 | 1.41203E-04 |
| V/I | rs183245562 |
-0.3 | None | N | 0.106 | 0.256 | None | gnomAD-3.1.2 | 7.96797E-04 | None | None | None | None | N | None | 2.87495E-03 | 6.57E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.79386E-04 |
| V/I | rs183245562 |
-0.3 | None | N | 0.106 | 0.256 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 1.5E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| V/I | rs183245562 |
-0.3 | None | N | 0.106 | 0.256 | None | gnomAD-4.0.0 | 1.53816E-04 | None | None | None | None | N | None | 2.66966E-03 | 1.67179E-04 | None | 0 | 0 | None | 0 | 1.65235E-04 | 2.37468E-05 | 1.09859E-05 | 1.28254E-04 |
| V/L | None | None | 0.004 | N | 0.272 | 0.206 | 0.241664281697 | gnomAD-4.0.0 | 6.8477E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65926E-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 | 0.3273 | likely_benign | 0.2763 | benign | -1.58 | Destabilizing | 0.052 | N | 0.337 | neutral | N | 0.520412631 | None | None | N |
| V/C | 0.7758 | likely_pathogenic | 0.621 | pathogenic | -0.945 | Destabilizing | 0.791 | D | 0.553 | neutral | None | None | None | None | N |
| V/D | 0.6108 | likely_pathogenic | 0.5416 | ambiguous | -1.407 | Destabilizing | 0.484 | N | 0.633 | neutral | D | 0.604233139 | None | None | N |
| V/E | 0.4987 | ambiguous | 0.4314 | ambiguous | -1.373 | Destabilizing | 0.262 | N | 0.597 | neutral | None | None | None | None | N |
| V/F | 0.1695 | likely_benign | 0.1496 | benign | -1.159 | Destabilizing | 0.541 | D | 0.595 | neutral | N | 0.480440154 | None | None | N |
| V/G | 0.4471 | ambiguous | 0.3733 | ambiguous | -1.946 | Destabilizing | 0.211 | N | 0.613 | neutral | D | 0.523782973 | None | None | N |
| V/H | 0.7203 | likely_pathogenic | 0.5987 | pathogenic | -1.533 | Destabilizing | 0.935 | D | 0.601 | neutral | None | None | None | None | N |
| V/I | 0.0548 | likely_benign | 0.0534 | benign | -0.655 | Destabilizing | None | N | 0.106 | neutral | N | 0.359797952 | None | None | N |
| V/K | 0.6025 | likely_pathogenic | 0.4809 | ambiguous | -1.3 | Destabilizing | 0.262 | N | 0.585 | neutral | None | None | None | None | N |
| V/L | 0.1456 | likely_benign | 0.1146 | benign | -0.655 | Destabilizing | 0.004 | N | 0.272 | neutral | N | 0.463085242 | None | None | N |
| V/M | 0.1139 | likely_benign | 0.1025 | benign | -0.439 | Destabilizing | 0.007 | N | 0.183 | neutral | None | None | None | None | N |
| V/N | 0.3873 | ambiguous | 0.3236 | benign | -1.104 | Destabilizing | 0.555 | D | 0.633 | neutral | None | None | None | None | N |
| V/P | 0.8986 | likely_pathogenic | 0.846 | pathogenic | -0.929 | Destabilizing | 0.791 | D | 0.611 | neutral | None | None | None | None | N |
| V/Q | 0.5574 | ambiguous | 0.4634 | ambiguous | -1.218 | Destabilizing | 0.555 | D | 0.604 | neutral | None | None | None | None | N |
| V/R | 0.5652 | likely_pathogenic | 0.4189 | ambiguous | -0.836 | Destabilizing | 0.555 | D | 0.627 | neutral | None | None | None | None | N |
| V/S | 0.3748 | ambiguous | 0.3023 | benign | -1.657 | Destabilizing | 0.081 | N | 0.556 | neutral | None | None | None | None | N |
| V/T | 0.2363 | likely_benign | 0.2174 | benign | -1.506 | Destabilizing | 0.002 | N | 0.159 | neutral | None | None | None | None | N |
| V/W | 0.8554 | likely_pathogenic | 0.7518 | pathogenic | -1.418 | Destabilizing | 0.935 | D | 0.621 | neutral | None | None | None | None | N |
| V/Y | 0.6044 | likely_pathogenic | 0.4986 | ambiguous | -1.109 | Destabilizing | 0.555 | D | 0.587 | 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.