Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29013 | 87262;87263;87264 | chr2:178558422;178558421;178558420 | chr2:179423149;179423148;179423147 |
| N2AB | 27372 | 82339;82340;82341 | chr2:178558422;178558421;178558420 | chr2:179423149;179423148;179423147 |
| N2A | 26445 | 79558;79559;79560 | chr2:178558422;178558421;178558420 | chr2:179423149;179423148;179423147 |
| N2B | 19948 | 60067;60068;60069 | chr2:178558422;178558421;178558420 | chr2:179423149;179423148;179423147 |
| Novex-1 | 20073 | 60442;60443;60444 | chr2:178558422;178558421;178558420 | chr2:179423149;179423148;179423147 |
| Novex-2 | 20140 | 60643;60644;60645 | chr2:178558422;178558421;178558420 | chr2:179423149;179423148;179423147 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/S | rs1171065121  |
-3.663 | 1.0 | D | 0.845 | 0.751 | 0.850690645745 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.6E-05 | None | 0 | None | 0 | 0 | 0 |
| F/S | rs1171065121 |
-3.663 | 1.0 | D | 0.845 | 0.751 | 0.850690645745 | gnomAD-4.0.0 | 1.59143E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77901E-05 | None | 0 | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9948 | likely_pathogenic | 0.9942 | pathogenic | -2.284 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| F/C | 0.9687 | likely_pathogenic | 0.9608 | pathogenic | -1.384 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.535946035 | None | None | N |
| F/D | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -3.369 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| F/E | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -3.15 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| F/G | 0.9966 | likely_pathogenic | 0.9962 | pathogenic | -2.686 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| F/H | 0.9929 | likely_pathogenic | 0.9936 | pathogenic | -2.171 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| F/I | 0.8042 | likely_pathogenic | 0.7595 | pathogenic | -0.951 | Destabilizing | 1.0 | D | 0.798 | deleterious | N | 0.4999212 | None | None | N |
| F/K | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -2.32 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| F/L | 0.9535 | likely_pathogenic | 0.9476 | pathogenic | -0.951 | Destabilizing | 1.0 | D | 0.671 | neutral | N | 0.498719886 | None | None | N |
| F/M | 0.9549 | likely_pathogenic | 0.9455 | pathogenic | -0.726 | Destabilizing | 0.999 | D | 0.808 | deleterious | None | None | None | None | N |
| F/N | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -3.068 | Highly Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| F/P | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -1.41 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| F/Q | 0.9987 | likely_pathogenic | 0.9987 | pathogenic | -2.774 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| F/R | 0.9975 | likely_pathogenic | 0.9975 | pathogenic | -2.372 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| F/S | 0.9953 | likely_pathogenic | 0.9949 | pathogenic | -3.32 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.553885706 | None | None | N |
| F/T | 0.996 | likely_pathogenic | 0.9955 | pathogenic | -2.981 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| F/V | 0.8498 | likely_pathogenic | 0.8077 | pathogenic | -1.41 | Destabilizing | 1.0 | D | 0.776 | deleterious | N | 0.485585472 | None | None | N |
| F/W | 0.9324 | likely_pathogenic | 0.9321 | pathogenic | -0.68 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| F/Y | 0.671 | likely_pathogenic | 0.6961 | pathogenic | -1.031 | Destabilizing | 1.0 | D | 0.592 | neutral | N | 0.497317988 | 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.