Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30397 | 91414;91415;91416 | chr2:178551711;178551710;178551709 | chr2:179416438;179416437;179416436 |
| N2AB | 28756 | 86491;86492;86493 | chr2:178551711;178551710;178551709 | chr2:179416438;179416437;179416436 |
| N2A | 27829 | 83710;83711;83712 | chr2:178551711;178551710;178551709 | chr2:179416438;179416437;179416436 |
| N2B | 21332 | 64219;64220;64221 | chr2:178551711;178551710;178551709 | chr2:179416438;179416437;179416436 |
| Novex-1 | 21457 | 64594;64595;64596 | chr2:178551711;178551710;178551709 | chr2:179416438;179416437;179416436 |
| Novex-2 | 21524 | 64795;64796;64797 | chr2:178551711;178551710;178551709 | chr2:179416438;179416437;179416436 |
| 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 | D | 0.86 | 0.704 | 0.847619057368 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92678E-04 | None | 0 | 0 | 0 | 0 | 0 |
| F/C | None | None | 1.0 | D | 0.86 | 0.704 | 0.847619057368 | gnomAD-4.0.0 | 6.57022E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.92678E-04 | None | 0 | 0 | 0 | 0 | 0 |
| F/L | None | None | 0.999 | N | 0.652 | 0.551 | 0.530160902827 | gnomAD-4.0.0 | 6.8432E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15985E-05 | 0 |
| F/V | rs1699512079  |
None | 1.0 | N | 0.797 | 0.56 | 0.822675192224 | gnomAD-4.0.0 | 1.36864E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79913E-06 | 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 | 0.9945 | likely_pathogenic | 0.9969 | pathogenic | -3.064 | Highly Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| F/C | 0.8969 | likely_pathogenic | 0.9409 | pathogenic | -1.604 | Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.542364816 | None | None | N |
| F/D | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -3.877 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| F/E | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -3.648 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| F/G | 0.9955 | likely_pathogenic | 0.9972 | pathogenic | -3.496 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| F/H | 0.9699 | likely_pathogenic | 0.9801 | pathogenic | -2.377 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| F/I | 0.891 | likely_pathogenic | 0.9311 | pathogenic | -1.614 | Destabilizing | 1.0 | D | 0.761 | deleterious | N | 0.493831587 | None | None | N |
| F/K | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -2.407 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| F/L | 0.9848 | likely_pathogenic | 0.9903 | pathogenic | -1.614 | Destabilizing | 0.999 | D | 0.652 | neutral | N | 0.499378222 | None | None | N |
| F/M | 0.9454 | likely_pathogenic | 0.9597 | pathogenic | -1.183 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| F/N | 0.995 | likely_pathogenic | 0.9969 | pathogenic | -3.081 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.116 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| F/Q | 0.9981 | likely_pathogenic | 0.9988 | pathogenic | -2.946 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| F/R | 0.9983 | likely_pathogenic | 0.9989 | pathogenic | -2.088 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| F/S | 0.993 | likely_pathogenic | 0.9961 | pathogenic | -3.491 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.553721121 | None | None | N |
| F/T | 0.996 | likely_pathogenic | 0.9976 | pathogenic | -3.15 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| F/V | 0.9064 | likely_pathogenic | 0.9409 | pathogenic | -2.116 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | N | 0.493485511 | None | None | N |
| F/W | 0.7921 | likely_pathogenic | 0.8378 | pathogenic | -0.82 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| F/Y | 0.33 | likely_benign | 0.3919 | ambiguous | -1.273 | Destabilizing | 0.999 | D | 0.585 | neutral | N | 0.495342979 | 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.