Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24617 | 74074;74075;74076 | chr2:178572283;178572282;178572281 | chr2:179437010;179437009;179437008 |
| N2AB | 22976 | 69151;69152;69153 | chr2:178572283;178572282;178572281 | chr2:179437010;179437009;179437008 |
| N2A | 22049 | 66370;66371;66372 | chr2:178572283;178572282;178572281 | chr2:179437010;179437009;179437008 |
| N2B | 15552 | 46879;46880;46881 | chr2:178572283;178572282;178572281 | chr2:179437010;179437009;179437008 |
| Novex-1 | 15677 | 47254;47255;47256 | chr2:178572283;178572282;178572281 | chr2:179437010;179437009;179437008 |
| Novex-2 | 15744 | 47455;47456;47457 | chr2:178572283;178572282;178572281 | chr2:179437010;179437009;179437008 |
| 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/R | rs1423389429  |
-1.639 | 1.0 | D | 0.785 | 0.592 | 0.619093476189 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/R | rs1423389429 |
-1.639 | 1.0 | D | 0.785 | 0.592 | 0.619093476189 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/R | rs1423389429 |
-1.639 | 1.0 | D | 0.785 | 0.592 | 0.619093476189 | gnomAD-4.0.0 | 2.56495E-06 | None | None | None | None | N | None | 3.38409E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9723 | likely_pathogenic | 0.9622 | pathogenic | -1.913 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.531719754 | None | None | N |
| P/C | 0.9962 | likely_pathogenic | 0.9955 | pathogenic | -2.19 | Highly Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| P/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.439 | Highly Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| P/E | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -3.33 | Highly Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| P/F | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.19 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| P/G | 0.998 | likely_pathogenic | 0.9973 | pathogenic | -2.291 | Highly Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| P/H | 0.9992 | likely_pathogenic | 0.999 | pathogenic | -1.731 | Destabilizing | 1.0 | D | 0.744 | deleterious | D | 0.562612346 | None | None | N |
| P/I | 0.9929 | likely_pathogenic | 0.9935 | pathogenic | -0.894 | Destabilizing | 1.0 | D | 0.735 | deleterious | None | None | None | None | N |
| P/K | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.764 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| P/L | 0.9774 | likely_pathogenic | 0.9752 | pathogenic | -0.894 | Destabilizing | 1.0 | D | 0.794 | deleterious | D | 0.527983544 | None | None | N |
| P/M | 0.9979 | likely_pathogenic | 0.9976 | pathogenic | -1.141 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| P/N | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -2.122 | Highly Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| P/Q | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -2.176 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| P/R | 0.9983 | likely_pathogenic | 0.9979 | pathogenic | -1.349 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.550330988 | None | None | N |
| P/S | 0.9976 | likely_pathogenic | 0.9964 | pathogenic | -2.516 | Highly Destabilizing | 1.0 | D | 0.732 | deleterious | D | 0.543494133 | None | None | N |
| P/T | 0.9953 | likely_pathogenic | 0.9942 | pathogenic | -2.299 | Highly Destabilizing | 1.0 | D | 0.74 | deleterious | D | 0.538467703 | None | None | N |
| P/V | 0.9835 | likely_pathogenic | 0.983 | pathogenic | -1.209 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.588 | Destabilizing | 1.0 | D | 0.729 | deleterious | None | None | None | None | N |
| P/Y | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.311 | Destabilizing | 1.0 | D | 0.809 | 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.