Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24520 | 73783;73784;73785 | chr2:178572574;178572573;178572572 | chr2:179437301;179437300;179437299 |
| N2AB | 22879 | 68860;68861;68862 | chr2:178572574;178572573;178572572 | chr2:179437301;179437300;179437299 |
| N2A | 21952 | 66079;66080;66081 | chr2:178572574;178572573;178572572 | chr2:179437301;179437300;179437299 |
| N2B | 15455 | 46588;46589;46590 | chr2:178572574;178572573;178572572 | chr2:179437301;179437300;179437299 |
| Novex-1 | 15580 | 46963;46964;46965 | chr2:178572574;178572573;178572572 | chr2:179437301;179437300;179437299 |
| Novex-2 | 15647 | 47164;47165;47166 | chr2:178572574;178572573;178572572 | chr2:179437301;179437300;179437299 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs780474186  |
-1.585 | 1.0 | D | 0.826 | 0.596 | 0.758169588313 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.6E-05 | None | 0 | None | 0 | 0 | 0 |
| P/A | rs780474186 |
-1.585 | 1.0 | D | 0.826 | 0.596 | 0.758169588313 | gnomAD-4.0.0 | 6.84346E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52449E-05 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | None | None | 1.0 | D | 0.821 | 0.608 | 0.905068943745 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| P/T | None | None | 1.0 | D | 0.774 | 0.588 | 0.793964991391 | gnomAD-4.0.0 | 6.84346E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99586E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9369 | likely_pathogenic | 0.8568 | pathogenic | -1.597 | Destabilizing | 1.0 | D | 0.826 | deleterious | D | 0.649773021 | None | None | N |
| P/C | 0.9964 | likely_pathogenic | 0.9925 | pathogenic | -1.969 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| P/D | 0.9999 | likely_pathogenic | 0.9997 | pathogenic | -3.152 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| P/E | 0.9997 | likely_pathogenic | 0.999 | pathogenic | -3.098 | Highly Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| P/F | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -1.222 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| P/G | 0.9983 | likely_pathogenic | 0.9961 | pathogenic | -1.91 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| P/H | 0.9996 | likely_pathogenic | 0.9989 | pathogenic | -1.324 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| P/I | 0.998 | likely_pathogenic | 0.9936 | pathogenic | -0.795 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| P/K | 0.9998 | likely_pathogenic | 0.9995 | pathogenic | -1.479 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| P/L | 0.9924 | likely_pathogenic | 0.9801 | pathogenic | -0.795 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.659695381 | None | None | N |
| P/M | 0.9991 | likely_pathogenic | 0.9971 | pathogenic | -1.028 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| P/N | 0.9998 | likely_pathogenic | 0.9995 | pathogenic | -1.744 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| P/Q | 0.9995 | likely_pathogenic | 0.9983 | pathogenic | -1.93 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.691935907 | None | None | N |
| P/R | 0.999 | likely_pathogenic | 0.9976 | pathogenic | -0.987 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.675714742 | None | None | N |
| P/S | 0.9937 | likely_pathogenic | 0.983 | pathogenic | -2.094 | Highly Destabilizing | 1.0 | D | 0.767 | deleterious | D | 0.691532298 | None | None | N |
| P/T | 0.9934 | likely_pathogenic | 0.9809 | pathogenic | -1.939 | Destabilizing | 1.0 | D | 0.774 | deleterious | D | 0.675714742 | None | None | N |
| P/V | 0.9905 | likely_pathogenic | 0.9764 | pathogenic | -1.034 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/W | 1.0 | likely_pathogenic | 0.9999 | pathogenic | -1.515 | Destabilizing | 1.0 | D | 0.735 | deleterious | None | None | None | None | N |
| P/Y | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -1.174 | Destabilizing | 1.0 | D | 0.82 | 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.