Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16752 | 50479;50480;50481 | chr2:178612157;178612156;178612155 | chr2:179476884;179476883;179476882 |
| N2AB | 15111 | 45556;45557;45558 | chr2:178612157;178612156;178612155 | chr2:179476884;179476883;179476882 |
| N2A | 14184 | 42775;42776;42777 | chr2:178612157;178612156;178612155 | chr2:179476884;179476883;179476882 |
| N2B | 7687 | 23284;23285;23286 | chr2:178612157;178612156;178612155 | chr2:179476884;179476883;179476882 |
| Novex-1 | 7812 | 23659;23660;23661 | chr2:178612157;178612156;178612155 | chr2:179476884;179476883;179476882 |
| Novex-2 | 7879 | 23860;23861;23862 | chr2:178612157;178612156;178612155 | chr2:179476884;179476883;179476882 |
| 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 | rs938347047  |
-1.437 | 0.999 | D | 0.837 | 0.528 | 0.751912527111 | gnomAD-2.1.1 | 8.27E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.09E-06 | 1.70126E-04 |
| P/A | rs938347047 |
-1.437 | 0.999 | D | 0.837 | 0.528 | 0.751912527111 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 1.96773E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78469E-04 |
| P/A | rs938347047 |
-1.437 | 0.999 | D | 0.837 | 0.528 | 0.751912527111 | gnomAD-4.0.0 | 9.94775E-06 | None | None | None | None | N | None | 4.02404E-05 | 5.08578E-05 | None | 0 | 0 | None | 0 | 0 | 5.94257E-06 | 0 | 4.82145E-05 |
| P/R | rs2056443749 |
None | 1.0 | D | 0.861 | 0.585 | 0.835189113915 | gnomAD-4.0.0 | 1.71639E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.25213E-05 | 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 | 0.8777 | likely_pathogenic | 0.9044 | pathogenic | -1.392 | Destabilizing | 0.999 | D | 0.837 | deleterious | D | 0.685912256 | None | None | N |
| P/C | 0.9959 | likely_pathogenic | 0.9971 | pathogenic | -2.036 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| P/D | 0.9994 | likely_pathogenic | 0.9997 | pathogenic | -3.371 | Highly Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| P/E | 0.998 | likely_pathogenic | 0.9991 | pathogenic | -3.296 | Highly Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| P/F | 0.9997 | likely_pathogenic | 0.9999 | pathogenic | -0.944 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| P/G | 0.9944 | likely_pathogenic | 0.9966 | pathogenic | -1.717 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/H | 0.9986 | likely_pathogenic | 0.9993 | pathogenic | -1.215 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.789492577 | None | None | N |
| P/I | 0.9947 | likely_pathogenic | 0.998 | pathogenic | -0.548 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| P/K | 0.999 | likely_pathogenic | 0.9995 | pathogenic | -1.451 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| P/L | 0.9857 | likely_pathogenic | 0.9936 | pathogenic | -0.548 | Destabilizing | 1.0 | D | 0.84 | deleterious | D | 0.756263118 | None | None | N |
| P/M | 0.9979 | likely_pathogenic | 0.9991 | pathogenic | -0.915 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| P/N | 0.9993 | likely_pathogenic | 0.9996 | pathogenic | -1.845 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| P/Q | 0.9974 | likely_pathogenic | 0.9989 | pathogenic | -1.969 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/R | 0.996 | likely_pathogenic | 0.9978 | pathogenic | -1.047 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.790036647 | None | None | N |
| P/S | 0.9889 | likely_pathogenic | 0.9946 | pathogenic | -2.12 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.789953735 | None | None | N |
| P/T | 0.985 | likely_pathogenic | 0.9932 | pathogenic | -1.943 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.756263118 | None | None | N |
| P/V | 0.9792 | likely_pathogenic | 0.9911 | pathogenic | -0.803 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.334 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| P/Y | 0.9997 | likely_pathogenic | 0.9999 | pathogenic | -0.977 | Destabilizing | 1.0 | D | 0.847 | 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.