Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13988 | 42187;42188;42189 | chr2:178635227;178635226;178635225 | chr2:179499954;179499953;179499952 |
| N2AB | 12347 | 37264;37265;37266 | chr2:178635227;178635226;178635225 | chr2:179499954;179499953;179499952 |
| N2A | 11420 | 34483;34484;34485 | chr2:178635227;178635226;178635225 | chr2:179499954;179499953;179499952 |
| N2B | 4923 | 14992;14993;14994 | chr2:178635227;178635226;178635225 | chr2:179499954;179499953;179499952 |
| Novex-1 | 5048 | 15367;15368;15369 | chr2:178635227;178635226;178635225 | chr2:179499954;179499953;179499952 |
| Novex-2 | 5115 | 15568;15569;15570 | chr2:178635227;178635226;178635225 | chr2:179499954;179499953;179499952 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/M | rs745782442  |
-1.346 | 0.999 | D | 0.718 | 0.267 | 0.304108284078 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| I/M | rs745782442 |
-1.346 | 0.999 | D | 0.718 | 0.267 | 0.304108284078 | gnomAD-4.0.0 | 1.59231E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43324E-05 | 0 |
| I/V | None | None | 0.985 | N | 0.41 | 0.164 | 0.364730456448 | gnomAD-4.0.0 | 1.59224E-06 | None | None | None | None | N | None | 5.66444E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9841 | likely_pathogenic | 0.97 | pathogenic | -2.743 | Highly Destabilizing | 0.998 | D | 0.578 | neutral | None | None | None | None | N |
| I/C | 0.9945 | likely_pathogenic | 0.9876 | pathogenic | -2.265 | Highly Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| I/D | 0.9982 | likely_pathogenic | 0.9974 | pathogenic | -3.352 | Highly Destabilizing | 0.999 | D | 0.915 | deleterious | None | None | None | None | N |
| I/E | 0.9964 | likely_pathogenic | 0.9952 | pathogenic | -3.183 | Highly Destabilizing | 0.999 | D | 0.913 | deleterious | None | None | None | None | N |
| I/F | 0.8003 | likely_pathogenic | 0.7449 | pathogenic | -1.614 | Destabilizing | 0.999 | D | 0.722 | deleterious | N | 0.480826068 | None | None | N |
| I/G | 0.9972 | likely_pathogenic | 0.9945 | pathogenic | -3.205 | Highly Destabilizing | 0.999 | D | 0.907 | deleterious | None | None | None | None | N |
| I/H | 0.9981 | likely_pathogenic | 0.9963 | pathogenic | -2.455 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| I/K | 0.997 | likely_pathogenic | 0.9948 | pathogenic | -2.104 | Highly Destabilizing | 0.999 | D | 0.913 | deleterious | None | None | None | None | N |
| I/L | 0.5776 | likely_pathogenic | 0.4088 | ambiguous | -1.418 | Destabilizing | 0.985 | D | 0.446 | neutral | N | 0.434138323 | None | None | N |
| I/M | 0.5934 | likely_pathogenic | 0.4364 | ambiguous | -1.542 | Destabilizing | 0.999 | D | 0.718 | prob.delet. | D | 0.522899391 | None | None | N |
| I/N | 0.9834 | likely_pathogenic | 0.9692 | pathogenic | -2.387 | Highly Destabilizing | 0.999 | D | 0.906 | deleterious | D | 0.523097926 | None | None | N |
| I/P | 0.9983 | likely_pathogenic | 0.9971 | pathogenic | -1.842 | Destabilizing | 0.999 | D | 0.909 | deleterious | None | None | None | None | N |
| I/Q | 0.9971 | likely_pathogenic | 0.9949 | pathogenic | -2.362 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| I/R | 0.996 | likely_pathogenic | 0.9932 | pathogenic | -1.649 | Destabilizing | 0.999 | D | 0.905 | deleterious | None | None | None | None | N |
| I/S | 0.9897 | likely_pathogenic | 0.978 | pathogenic | -2.997 | Highly Destabilizing | 0.999 | D | 0.891 | deleterious | N | 0.520927519 | None | None | N |
| I/T | 0.9717 | likely_pathogenic | 0.927 | pathogenic | -2.706 | Highly Destabilizing | 0.999 | D | 0.731 | deleterious | N | 0.480826068 | None | None | N |
| I/V | 0.4087 | ambiguous | 0.2769 | benign | -1.842 | Destabilizing | 0.985 | D | 0.41 | neutral | N | 0.421009875 | None | None | N |
| I/W | 0.9971 | likely_pathogenic | 0.9961 | pathogenic | -1.933 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| I/Y | 0.983 | likely_pathogenic | 0.9768 | pathogenic | -1.747 | Destabilizing | 0.999 | D | 0.799 | 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.