Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32900 | 98923;98924;98925 | chr2:178539237;178539236;178539235 | chr2:179403964;179403963;179403962 |
| N2AB | 31259 | 94000;94001;94002 | chr2:178539237;178539236;178539235 | chr2:179403964;179403963;179403962 |
| N2A | 30332 | 91219;91220;91221 | chr2:178539237;178539236;178539235 | chr2:179403964;179403963;179403962 |
| N2B | 23835 | 71728;71729;71730 | chr2:178539237;178539236;178539235 | chr2:179403964;179403963;179403962 |
| Novex-1 | 23960 | 72103;72104;72105 | chr2:178539237;178539236;178539235 | chr2:179403964;179403963;179403962 |
| Novex-2 | 24027 | 72304;72305;72306 | chr2:178539237;178539236;178539235 | chr2:179403964;179403963;179403962 |
| 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 | rs1348881134  |
None | 1.0 | D | 0.848 | 0.566 | 0.714309865771 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 2.88018E-04 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/R | rs1348881134 |
None | 1.0 | D | 0.848 | 0.566 | 0.714309865771 | gnomAD-4.0.0 | 6.57186E-06 | None | None | None | None | N | None | 0 | 0 | None | 2.88018E-04 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs1193416365 |
-2.468 | 1.0 | D | 0.805 | 0.612 | 0.624848976157 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| P/S | rs1193416365 |
-2.468 | 1.0 | D | 0.805 | 0.612 | 0.624848976157 | gnomAD-4.0.0 | 1.59338E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86333E-06 | 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 | 0.5692 | likely_pathogenic | 0.6261 | pathogenic | -1.741 | Destabilizing | 1.0 | D | 0.753 | deleterious | D | 0.559598516 | None | None | N |
| P/C | 0.9246 | likely_pathogenic | 0.927 | pathogenic | -2.415 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| P/D | 0.9941 | likely_pathogenic | 0.9961 | pathogenic | -3.446 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| P/E | 0.9878 | likely_pathogenic | 0.9927 | pathogenic | -3.313 | Highly Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| P/F | 0.9892 | likely_pathogenic | 0.9931 | pathogenic | -1.054 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| P/G | 0.9543 | likely_pathogenic | 0.961 | pathogenic | -2.127 | Highly Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| P/H | 0.9784 | likely_pathogenic | 0.988 | pathogenic | -1.655 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| P/I | 0.8833 | likely_pathogenic | 0.8948 | pathogenic | -0.696 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| P/K | 0.994 | likely_pathogenic | 0.9964 | pathogenic | -1.678 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| P/L | 0.7971 | likely_pathogenic | 0.8571 | pathogenic | -0.696 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.597178829 | None | None | N |
| P/M | 0.9453 | likely_pathogenic | 0.9591 | pathogenic | -1.22 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/N | 0.9866 | likely_pathogenic | 0.9917 | pathogenic | -2.122 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/Q | 0.9694 | likely_pathogenic | 0.9828 | pathogenic | -2.143 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.581159468 | None | None | N |
| P/R | 0.9833 | likely_pathogenic | 0.9901 | pathogenic | -1.373 | Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.587861883 | None | None | N |
| P/S | 0.8369 | likely_pathogenic | 0.8885 | pathogenic | -2.504 | Highly Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.575819681 | None | None | N |
| P/T | 0.7946 | likely_pathogenic | 0.8503 | pathogenic | -2.255 | Highly Destabilizing | 1.0 | D | 0.816 | deleterious | D | 0.562555936 | None | None | N |
| P/V | 0.7625 | likely_pathogenic | 0.7656 | pathogenic | -1.019 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| P/W | 0.9978 | likely_pathogenic | 0.9987 | pathogenic | -1.459 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| P/Y | 0.9945 | likely_pathogenic | 0.997 | pathogenic | -1.134 | Destabilizing | 1.0 | D | 0.833 | 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.