Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20934 | 63025;63026;63027 | chr2:178588925;178588924;178588923 | chr2:179453652;179453651;179453650 |
| N2AB | 19293 | 58102;58103;58104 | chr2:178588925;178588924;178588923 | chr2:179453652;179453651;179453650 |
| N2A | 18366 | 55321;55322;55323 | chr2:178588925;178588924;178588923 | chr2:179453652;179453651;179453650 |
| N2B | 11869 | 35830;35831;35832 | chr2:178588925;178588924;178588923 | chr2:179453652;179453651;179453650 |
| Novex-1 | 11994 | 36205;36206;36207 | chr2:178588925;178588924;178588923 | chr2:179453652;179453651;179453650 |
| Novex-2 | 12061 | 36406;36407;36408 | chr2:178588925;178588924;178588923 | chr2:179453652;179453651;179453650 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs568688685  |
-2.078 | 1.0 | D | 0.872 | 0.839 | 0.887891861399 | gnomAD-2.1.1 | 7.17E-06 | None | None | None | None | N | None | 8.28E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/C | rs568688685 |
-2.078 | 1.0 | D | 0.872 | 0.839 | 0.887891861399 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/C | rs568688685 |
-2.078 | 1.0 | D | 0.872 | 0.839 | 0.887891861399 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| Y/C | rs568688685 |
-2.078 | 1.0 | D | 0.872 | 0.839 | 0.887891861399 | gnomAD-4.0.0 | 4.05968E-06 | None | None | None | None | N | None | 6.9752E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -3.514 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| Y/C | 0.9904 | likely_pathogenic | 0.9939 | pathogenic | -2.084 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | D | 0.669917754 | None | None | N |
| Y/D | 0.9974 | likely_pathogenic | 0.9978 | pathogenic | -3.689 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.669917754 | None | None | N |
| Y/E | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -3.51 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| Y/F | 0.6436 | likely_pathogenic | 0.6703 | pathogenic | -1.327 | Destabilizing | 0.999 | D | 0.762 | deleterious | D | 0.630723007 | None | None | N |
| Y/G | 0.9936 | likely_pathogenic | 0.9947 | pathogenic | -3.902 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| Y/H | 0.9959 | likely_pathogenic | 0.9972 | pathogenic | -2.312 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.669917754 | None | None | N |
| Y/I | 0.9872 | likely_pathogenic | 0.9904 | pathogenic | -2.213 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| Y/K | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -2.398 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| Y/L | 0.9768 | likely_pathogenic | 0.9808 | pathogenic | -2.213 | Highly Destabilizing | 0.999 | D | 0.831 | deleterious | None | None | None | None | N |
| Y/M | 0.9925 | likely_pathogenic | 0.9942 | pathogenic | -1.91 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| Y/N | 0.9845 | likely_pathogenic | 0.9875 | pathogenic | -3.073 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.66971595 | None | None | N |
| Y/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.662 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| Y/Q | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -2.91 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| Y/R | 0.9988 | likely_pathogenic | 0.9991 | pathogenic | -1.949 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| Y/S | 0.9961 | likely_pathogenic | 0.9968 | pathogenic | -3.445 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.669917754 | None | None | N |
| Y/T | 0.9983 | likely_pathogenic | 0.9987 | pathogenic | -3.16 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| Y/V | 0.976 | likely_pathogenic | 0.9809 | pathogenic | -2.662 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| Y/W | 0.9663 | likely_pathogenic | 0.972 | pathogenic | -0.628 | Destabilizing | 1.0 | D | 0.824 | 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.