Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15730 | 47413;47414;47415 | chr2:178618270;178618269;178618268 | chr2:179482997;179482996;179482995 |
| N2AB | 14089 | 42490;42491;42492 | chr2:178618270;178618269;178618268 | chr2:179482997;179482996;179482995 |
| N2A | 13162 | 39709;39710;39711 | chr2:178618270;178618269;178618268 | chr2:179482997;179482996;179482995 |
| N2B | 6665 | 20218;20219;20220 | chr2:178618270;178618269;178618268 | chr2:179482997;179482996;179482995 |
| Novex-1 | 6790 | 20593;20594;20595 | chr2:178618270;178618269;178618268 | chr2:179482997;179482996;179482995 |
| Novex-2 | 6857 | 20794;20795;20796 | chr2:178618270;178618269;178618268 | chr2:179482997;179482996;179482995 |
| 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/L | rs2057713125  |
None | 0.999 | D | 0.685 | 0.501 | 0.486779940545 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/L | rs2057713125 |
None | 0.999 | D | 0.685 | 0.501 | 0.486779940545 | gnomAD-4.0.0 | 6.58267E-06 | None | None | None | None | N | None | 2.41511E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9988 | likely_pathogenic | 0.9986 | pathogenic | -2.645 | Highly Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| F/C | 0.9897 | likely_pathogenic | 0.9853 | pathogenic | -1.559 | Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.78037422 | None | None | N |
| F/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.679 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| F/E | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.446 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| F/G | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -3.085 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| F/H | 0.9974 | likely_pathogenic | 0.9968 | pathogenic | -2.096 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| F/I | 0.9677 | likely_pathogenic | 0.968 | pathogenic | -1.184 | Destabilizing | 1.0 | D | 0.766 | deleterious | D | 0.606411323 | None | None | N |
| F/K | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -2.422 | Highly Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| F/L | 0.9942 | likely_pathogenic | 0.9948 | pathogenic | -1.184 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | D | 0.647586596 | None | None | N |
| F/M | 0.9874 | likely_pathogenic | 0.987 | pathogenic | -0.801 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| F/N | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -3.156 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.686 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| F/Q | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -2.957 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| F/R | 0.9992 | likely_pathogenic | 0.9989 | pathogenic | -2.228 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| F/S | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -3.548 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.78037422 | None | None | N |
| F/T | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -3.193 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| F/V | 0.972 | likely_pathogenic | 0.9692 | pathogenic | -1.686 | Destabilizing | 1.0 | D | 0.746 | deleterious | D | 0.591624691 | None | None | N |
| F/W | 0.965 | likely_pathogenic | 0.9591 | pathogenic | -0.609 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| F/Y | 0.8354 | likely_pathogenic | 0.859 | pathogenic | -0.989 | Destabilizing | 0.999 | D | 0.587 | neutral | D | 0.58165904 | 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.