Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35162 | 105709;105710;105711 | chr2:178531131;178531130;178531129 | chr2:179395858;179395857;179395856 |
| N2AB | 33521 | 100786;100787;100788 | chr2:178531131;178531130;178531129 | chr2:179395858;179395857;179395856 |
| N2A | 32594 | 98005;98006;98007 | chr2:178531131;178531130;178531129 | chr2:179395858;179395857;179395856 |
| N2B | 26097 | 78514;78515;78516 | chr2:178531131;178531130;178531129 | chr2:179395858;179395857;179395856 |
| Novex-1 | 26222 | 78889;78890;78891 | chr2:178531131;178531130;178531129 | chr2:179395858;179395857;179395856 |
| Novex-2 | 26289 | 79090;79091;79092 | chr2:178531131;178531130;178531129 | chr2:179395858;179395857;179395856 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | None | None | 0.999 | D | 0.824 | 0.936 | 0.943761194631 | gnomAD-4.0.0 | 3.18174E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71504E-06 | 0 | 0 |
| W/S | rs886042795  |
-2.592 | 0.999 | D | 0.8 | 0.895 | 0.964451493746 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| W/S | rs886042795 |
-2.592 | 0.999 | D | 0.8 | 0.895 | 0.964451493746 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| W/S | rs886042795 |
-2.592 | 0.999 | D | 0.8 | 0.895 | 0.964451493746 | gnomAD-4.0.0 | 6.57307E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47007E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9894 | likely_pathogenic | 0.9887 | pathogenic | -2.467 | Highly Destabilizing | 0.999 | D | 0.8 | deleterious | None | None | None | None | N |
| W/C | 0.9928 | likely_pathogenic | 0.9927 | pathogenic | -0.761 | Destabilizing | 1.0 | D | 0.745 | deleterious | D | 0.701208135 | None | None | N |
| W/D | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -2.864 | Highly Destabilizing | 0.999 | D | 0.825 | deleterious | None | None | None | None | N |
| W/E | 0.9986 | likely_pathogenic | 0.9987 | pathogenic | -2.722 | Highly Destabilizing | 0.999 | D | 0.796 | deleterious | None | None | None | None | N |
| W/F | 0.5375 | ambiguous | 0.5133 | ambiguous | -1.71 | Destabilizing | 0.999 | D | 0.829 | deleterious | None | None | None | None | N |
| W/G | 0.9744 | likely_pathogenic | 0.9723 | pathogenic | -2.722 | Highly Destabilizing | 0.999 | D | 0.764 | deleterious | D | 0.717257856 | None | None | N |
| W/H | 0.9933 | likely_pathogenic | 0.9929 | pathogenic | -2.597 | Highly Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| W/I | 0.9441 | likely_pathogenic | 0.9381 | pathogenic | -1.512 | Destabilizing | 0.999 | D | 0.814 | deleterious | None | None | None | None | N |
| W/K | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -1.909 | Destabilizing | 0.999 | D | 0.795 | deleterious | None | None | None | None | N |
| W/L | 0.8773 | likely_pathogenic | 0.8693 | pathogenic | -1.512 | Destabilizing | 0.999 | D | 0.764 | deleterious | D | 0.691719744 | None | None | N |
| W/M | 0.9805 | likely_pathogenic | 0.9786 | pathogenic | -0.977 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| W/N | 0.9985 | likely_pathogenic | 0.9984 | pathogenic | -2.598 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| W/P | 0.9981 | likely_pathogenic | 0.998 | pathogenic | -1.859 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| W/Q | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -2.287 | Highly Destabilizing | 0.999 | D | 0.805 | deleterious | None | None | None | None | N |
| W/R | 0.9979 | likely_pathogenic | 0.9979 | pathogenic | -2.155 | Highly Destabilizing | 0.999 | D | 0.824 | deleterious | D | 0.71745966 | None | None | N |
| W/S | 0.9874 | likely_pathogenic | 0.9867 | pathogenic | -2.625 | Highly Destabilizing | 0.999 | D | 0.8 | deleterious | D | 0.71745966 | None | None | N |
| W/T | 0.9901 | likely_pathogenic | 0.9887 | pathogenic | -2.391 | Highly Destabilizing | 0.999 | D | 0.777 | deleterious | None | None | None | None | N |
| W/V | 0.9403 | likely_pathogenic | 0.9359 | pathogenic | -1.859 | Destabilizing | 0.999 | D | 0.797 | deleterious | None | None | None | None | N |
| W/Y | 0.8571 | likely_pathogenic | 0.8499 | pathogenic | -1.579 | Destabilizing | 0.999 | D | 0.78 | 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.