Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2914 | 8965;8966;8967 | chr2:178769841;178769840;178769839 | chr2:179634568;179634567;179634566 |
| N2AB | 2914 | 8965;8966;8967 | chr2:178769841;178769840;178769839 | chr2:179634568;179634567;179634566 |
| N2A | 2914 | 8965;8966;8967 | chr2:178769841;178769840;178769839 | chr2:179634568;179634567;179634566 |
| N2B | 2868 | 8827;8828;8829 | chr2:178769841;178769840;178769839 | chr2:179634568;179634567;179634566 |
| Novex-1 | 2868 | 8827;8828;8829 | chr2:178769841;178769840;178769839 | chr2:179634568;179634567;179634566 |
| Novex-2 | 2868 | 8827;8828;8829 | chr2:178769841;178769840;178769839 | chr2:179634568;179634567;179634566 |
| Novex-3 | 2914 | 8965;8966;8967 | chr2:178769841;178769840;178769839 | chr2:179634568;179634567;179634566 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | None | None | 1.0 | D | 0.865 | 0.975 | 0.931936721434 | gnomAD-4.0.0 | 1.59049E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9988 | likely_pathogenic | 0.9982 | pathogenic | -3.083 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| W/C | 0.9996 | likely_pathogenic | 0.999 | pathogenic | -1.551 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.739013432 | None | None | N |
| W/D | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.672 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| W/E | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.553 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| W/F | 0.8516 | likely_pathogenic | 0.8222 | pathogenic | -2.065 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| W/G | 0.995 | likely_pathogenic | 0.9935 | pathogenic | -3.315 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.739013432 | None | None | N |
| W/H | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -2.576 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| W/I | 0.9936 | likely_pathogenic | 0.9909 | pathogenic | -2.185 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.681 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| W/L | 0.9789 | likely_pathogenic | 0.9665 | pathogenic | -2.185 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.739364932 | None | None | N |
| W/M | 0.9974 | likely_pathogenic | 0.9959 | pathogenic | -1.561 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| W/N | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.431 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| W/P | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -2.515 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.223 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| W/R | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.552 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.739013432 | None | None | N |
| W/S | 0.9991 | likely_pathogenic | 0.9986 | pathogenic | -3.467 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | D | 0.739013432 | None | None | N |
| W/T | 0.9992 | likely_pathogenic | 0.9989 | pathogenic | -3.272 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| W/V | 0.9955 | likely_pathogenic | 0.9932 | pathogenic | -2.515 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| W/Y | 0.9703 | likely_pathogenic | 0.9636 | pathogenic | -1.935 | Destabilizing | 1.0 | D | 0.77 | 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.