Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19257 | 57994;57995;57996 | chr2:178595585;178595584;178595583 | chr2:179460312;179460311;179460310 |
| N2AB | 17616 | 53071;53072;53073 | chr2:178595585;178595584;178595583 | chr2:179460312;179460311;179460310 |
| N2A | 16689 | 50290;50291;50292 | chr2:178595585;178595584;178595583 | chr2:179460312;179460311;179460310 |
| N2B | 10192 | 30799;30800;30801 | chr2:178595585;178595584;178595583 | chr2:179460312;179460311;179460310 |
| Novex-1 | 10317 | 31174;31175;31176 | chr2:178595585;178595584;178595583 | chr2:179460312;179460311;179460310 |
| Novex-2 | 10384 | 31375;31376;31377 | chr2:178595585;178595584;178595583 | chr2:179460312;179460311;179460310 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/Q | rs202076328  |
-1.137 | 1.0 | N | 0.8 | 0.424 | None | gnomAD-2.1.1 | 5.24454E-04 | None | None | None | None | N | None | 9.52E-05 | 2.00978E-04 | None | 0 | 0 | None | 3.94E-05 | None | 3.181E-03 | 3.28666E-04 | 1.27918E-03 |
| R/Q | rs202076328 |
-1.137 | 1.0 | N | 0.8 | 0.424 | None | gnomAD-3.1.2 | 2.9656E-04 | None | None | None | None | N | None | 1.20942E-04 | 6.57E-05 | 0 | 0 | 0 | None | 2.09644E-03 | 0 | 2.35419E-04 | 0 | 4.78469E-04 |
| R/Q | rs202076328 |
-1.137 | 1.0 | N | 0.8 | 0.424 | None | gnomAD-4.0.0 | 2.32162E-04 | None | None | None | None | N | None | 1.47965E-04 | 1.45027E-04 | None | 3.43832E-05 | 4.60278E-05 | None | 3.662E-03 | 1.65673E-04 | 6.97056E-05 | 1.15652E-04 | 4.24019E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9942 | likely_pathogenic | 0.9952 | pathogenic | -2.147 | Highly Destabilizing | 0.999 | D | 0.677 | prob.neutral | None | None | None | None | N |
| R/C | 0.8463 | likely_pathogenic | 0.8808 | pathogenic | -1.975 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| R/D | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -1.604 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| R/E | 0.9896 | likely_pathogenic | 0.9921 | pathogenic | -1.372 | Destabilizing | 0.999 | D | 0.697 | prob.neutral | None | None | None | None | N |
| R/F | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -1.178 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| R/G | 0.9887 | likely_pathogenic | 0.9909 | pathogenic | -2.47 | Highly Destabilizing | 1.0 | D | 0.794 | deleterious | D | 0.539829921 | None | None | N |
| R/H | 0.8076 | likely_pathogenic | 0.8374 | pathogenic | -1.92 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| R/I | 0.9945 | likely_pathogenic | 0.9958 | pathogenic | -1.18 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| R/K | 0.6552 | likely_pathogenic | 0.7234 | pathogenic | -1.271 | Destabilizing | 0.998 | D | 0.684 | prob.neutral | None | None | None | None | N |
| R/L | 0.9837 | likely_pathogenic | 0.9865 | pathogenic | -1.18 | Destabilizing | 1.0 | D | 0.794 | deleterious | N | 0.51062285 | None | None | N |
| R/M | 0.994 | likely_pathogenic | 0.996 | pathogenic | -1.683 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| R/N | 0.9978 | likely_pathogenic | 0.9982 | pathogenic | -1.764 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| R/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.497 | Destabilizing | 1.0 | D | 0.852 | deleterious | D | 0.5403369 | None | None | N |
| R/Q | 0.6738 | likely_pathogenic | 0.6998 | pathogenic | -1.509 | Destabilizing | 1.0 | D | 0.8 | deleterious | N | 0.493364288 | None | None | N |
| R/S | 0.9964 | likely_pathogenic | 0.9971 | pathogenic | -2.465 | Highly Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| R/T | 0.9965 | likely_pathogenic | 0.9972 | pathogenic | -2.032 | Highly Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| R/V | 0.9942 | likely_pathogenic | 0.9951 | pathogenic | -1.497 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| R/W | 0.9787 | likely_pathogenic | 0.9825 | pathogenic | -0.75 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| R/Y | 0.9953 | likely_pathogenic | 0.9959 | pathogenic | -0.702 | Destabilizing | 1.0 | D | 0.879 | deleterious | 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.