Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25129 | 75610;75611;75612 | chr2:178570747;178570746;178570745 | chr2:179435474;179435473;179435472 |
| N2AB | 23488 | 70687;70688;70689 | chr2:178570747;178570746;178570745 | chr2:179435474;179435473;179435472 |
| N2A | 22561 | 67906;67907;67908 | chr2:178570747;178570746;178570745 | chr2:179435474;179435473;179435472 |
| N2B | 16064 | 48415;48416;48417 | chr2:178570747;178570746;178570745 | chr2:179435474;179435473;179435472 |
| Novex-1 | 16189 | 48790;48791;48792 | chr2:178570747;178570746;178570745 | chr2:179435474;179435473;179435472 |
| Novex-2 | 16256 | 48991;48992;48993 | chr2:178570747;178570746;178570745 | chr2:179435474;179435473;179435472 |
| 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/C | None | None | 1.0 | N | 0.843 | 0.568 | 0.597511309715 | gnomAD-4.0.0 | 6.84285E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99572E-07 | 0 | 0 |
| F/L | rs373411870  |
-1.218 | 0.999 | N | 0.563 | 0.474 | 0.208000267992 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| F/L | rs373411870 |
-1.218 | 0.999 | N | 0.563 | 0.474 | 0.208000267992 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| F/L | rs373411870 |
-1.218 | 0.999 | N | 0.563 | 0.474 | 0.208000267992 | gnomAD-4.0.0 | 1.59168E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8593E-06 | 0 | 0 |
| F/Y | None | None | 0.999 | N | 0.551 | 0.393 | 0.355242300401 | gnomAD-4.0.0 | 6.84285E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9553 | likely_pathogenic | 0.9518 | pathogenic | -2.73 | Highly Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| F/C | 0.649 | likely_pathogenic | 0.6292 | pathogenic | -2.213 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | N | 0.462756005 | None | None | N |
| F/D | 0.9967 | likely_pathogenic | 0.9971 | pathogenic | -2.299 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| F/E | 0.9955 | likely_pathogenic | 0.9961 | pathogenic | -2.106 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| F/G | 0.9859 | likely_pathogenic | 0.9852 | pathogenic | -3.167 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| F/H | 0.9663 | likely_pathogenic | 0.9701 | pathogenic | -1.567 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| F/I | 0.3199 | likely_benign | 0.3046 | benign | -1.334 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | N | 0.431424673 | None | None | N |
| F/K | 0.9937 | likely_pathogenic | 0.9945 | pathogenic | -2.326 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| F/L | 0.8693 | likely_pathogenic | 0.869 | pathogenic | -1.334 | Destabilizing | 0.999 | D | 0.563 | neutral | N | 0.415492428 | None | None | N |
| F/M | 0.7172 | likely_pathogenic | 0.7039 | pathogenic | -1.209 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| F/N | 0.9897 | likely_pathogenic | 0.9904 | pathogenic | -2.677 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| F/P | 0.9985 | likely_pathogenic | 0.9986 | pathogenic | -1.806 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| F/Q | 0.989 | likely_pathogenic | 0.99 | pathogenic | -2.578 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| F/R | 0.9846 | likely_pathogenic | 0.9863 | pathogenic | -1.844 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| F/S | 0.9646 | likely_pathogenic | 0.9652 | pathogenic | -3.468 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | N | 0.477644256 | None | None | N |
| F/T | 0.9573 | likely_pathogenic | 0.9574 | pathogenic | -3.153 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| F/V | 0.3987 | ambiguous | 0.3744 | ambiguous | -1.806 | Destabilizing | 1.0 | D | 0.751 | deleterious | N | 0.426976071 | None | None | N |
| F/W | 0.7914 | likely_pathogenic | 0.8043 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| F/Y | 0.55 | ambiguous | 0.5675 | pathogenic | -0.818 | Destabilizing | 0.999 | D | 0.551 | neutral | N | 0.489000562 | 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.