Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30990 | 93193;93194;93195 | chr2:178548658;178548657;178548656 | chr2:179413385;179413384;179413383 |
| N2AB | 29349 | 88270;88271;88272 | chr2:178548658;178548657;178548656 | chr2:179413385;179413384;179413383 |
| N2A | 28422 | 85489;85490;85491 | chr2:178548658;178548657;178548656 | chr2:179413385;179413384;179413383 |
| N2B | 21925 | 65998;65999;66000 | chr2:178548658;178548657;178548656 | chr2:179413385;179413384;179413383 |
| Novex-1 | 22050 | 66373;66374;66375 | chr2:178548658;178548657;178548656 | chr2:179413385;179413384;179413383 |
| Novex-2 | 22117 | 66574;66575;66576 | chr2:178548658;178548657;178548656 | chr2:179413385;179413384;179413383 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs781038013  |
-0.298 | 0.767 | D | 0.363 | 0.505 | 0.394384168047 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| D/E | rs781038013 |
-0.298 | 0.767 | D | 0.363 | 0.505 | 0.394384168047 | gnomAD-4.0.0 | 1.59113E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77269E-05 | None | 0 | 0 | 0 | 0 | 0 |
| D/H | rs747622770 |
None | 1.0 | D | 0.831 | 0.825 | 0.647156358147 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/H | rs747622770 |
None | 1.0 | D | 0.831 | 0.825 | 0.647156358147 | gnomAD-4.0.0 | 9.29525E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.27139E-05 | 0 | 0 |
| D/N | rs747622770 |
-0.321 | 0.999 | D | 0.804 | 0.782 | 0.677940303636 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| D/N | rs747622770 |
-0.321 | 0.999 | D | 0.804 | 0.782 | 0.677940303636 | gnomAD-4.0.0 | 6.84191E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51902E-05 | None | 0 | 0 | 0 | 0 | 0 |
| D/V | rs1206561468 |
0.28 | 0.999 | D | 0.863 | 0.886 | 0.906290120609 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/V | rs1206561468 |
0.28 | 0.999 | D | 0.863 | 0.886 | 0.906290120609 | gnomAD-4.0.0 | 1.59113E-06 | None | None | None | None | N | None | 0 | 2.28645E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/Y | None | None | 1.0 | D | 0.862 | 0.865 | 0.894255340531 | gnomAD-4.0.0 | 1.36838E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31906E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9838 | likely_pathogenic | 0.9845 | pathogenic | -0.236 | Destabilizing | 0.996 | D | 0.803 | deleterious | D | 0.63690755 | None | None | N |
| D/C | 0.9923 | likely_pathogenic | 0.993 | pathogenic | -0.173 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| D/E | 0.9382 | likely_pathogenic | 0.9419 | pathogenic | -0.953 | Destabilizing | 0.767 | D | 0.363 | neutral | D | 0.574405257 | None | None | N |
| D/F | 0.9963 | likely_pathogenic | 0.9969 | pathogenic | 0.031 | Stabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| D/G | 0.9888 | likely_pathogenic | 0.9886 | pathogenic | -0.646 | Destabilizing | 0.998 | D | 0.777 | deleterious | D | 0.637109355 | None | None | N |
| D/H | 0.958 | likely_pathogenic | 0.9656 | pathogenic | -0.47 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.566733105 | None | None | N |
| D/I | 0.9943 | likely_pathogenic | 0.9947 | pathogenic | 0.854 | Stabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| D/K | 0.9947 | likely_pathogenic | 0.995 | pathogenic | -0.593 | Destabilizing | 0.999 | D | 0.8 | deleterious | None | None | None | None | N |
| D/L | 0.994 | likely_pathogenic | 0.9941 | pathogenic | 0.854 | Stabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| D/M | 0.9969 | likely_pathogenic | 0.9972 | pathogenic | 1.375 | Stabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| D/N | 0.9235 | likely_pathogenic | 0.9271 | pathogenic | -1.121 | Destabilizing | 0.999 | D | 0.804 | deleterious | D | 0.619273755 | None | None | N |
| D/P | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | 0.519 | Stabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| D/Q | 0.9898 | likely_pathogenic | 0.9912 | pathogenic | -0.854 | Destabilizing | 0.999 | D | 0.823 | deleterious | None | None | None | None | N |
| D/R | 0.9949 | likely_pathogenic | 0.9953 | pathogenic | -0.555 | Destabilizing | 0.999 | D | 0.857 | deleterious | None | None | None | None | N |
| D/S | 0.9628 | likely_pathogenic | 0.9671 | pathogenic | -1.39 | Destabilizing | 0.997 | D | 0.683 | prob.neutral | None | None | None | None | N |
| D/T | 0.9896 | likely_pathogenic | 0.9905 | pathogenic | -1.04 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| D/V | 0.9852 | likely_pathogenic | 0.9854 | pathogenic | 0.519 | Stabilizing | 0.999 | D | 0.863 | deleterious | D | 0.637512963 | None | None | N |
| D/W | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | 0.006 | Stabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| D/Y | 0.9701 | likely_pathogenic | 0.973 | pathogenic | 0.211 | Stabilizing | 1.0 | D | 0.862 | deleterious | D | 0.637311159 | 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.