Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29305 | 88138;88139;88140 | chr2:178557349;178557348;178557347 | chr2:179422076;179422075;179422074 |
| N2AB | 27664 | 83215;83216;83217 | chr2:178557349;178557348;178557347 | chr2:179422076;179422075;179422074 |
| N2A | 26737 | 80434;80435;80436 | chr2:178557349;178557348;178557347 | chr2:179422076;179422075;179422074 |
| N2B | 20240 | 60943;60944;60945 | chr2:178557349;178557348;178557347 | chr2:179422076;179422075;179422074 |
| Novex-1 | 20365 | 61318;61319;61320 | chr2:178557349;178557348;178557347 | chr2:179422076;179422075;179422074 |
| Novex-2 | 20432 | 61519;61520;61521 | chr2:178557349;178557348;178557347 | chr2:179422076;179422075;179422074 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 1.0 | N | 0.709 | 0.543 | 0.448399296293 | gnomAD-4.0.0 | 1.59101E-06 | None | None | None | None | N | None | 5.65163E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/E | rs1211878996  |
0.06 | 1.0 | N | 0.861 | 0.645 | 0.754536385428 | 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 |
| G/E | rs1211878996 |
0.06 | 1.0 | N | 0.861 | 0.645 | 0.754536385428 | gnomAD-4.0.0 | 4.77304E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.57319E-06 | 0 | 0 |
| G/R | rs1272677805 |
-0.083 | 1.0 | N | 0.856 | 0.645 | 0.830234237266 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs1272677805 |
-0.083 | 1.0 | N | 0.856 | 0.645 | 0.830234237266 | gnomAD-4.0.0 | 6.84163E-07 | None | None | None | None | N | None | 0 | 2.23594E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7921 | likely_pathogenic | 0.7463 | pathogenic | -0.32 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | N | 0.507157037 | None | None | N |
| G/C | 0.8585 | likely_pathogenic | 0.8379 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/D | 0.9384 | likely_pathogenic | 0.9026 | pathogenic | -0.316 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| G/E | 0.9656 | likely_pathogenic | 0.9419 | pathogenic | -0.431 | Destabilizing | 1.0 | D | 0.861 | deleterious | N | 0.513246651 | None | None | N |
| G/F | 0.9838 | likely_pathogenic | 0.9792 | pathogenic | -0.813 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/H | 0.9704 | likely_pathogenic | 0.9587 | pathogenic | -0.567 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/I | 0.9844 | likely_pathogenic | 0.9812 | pathogenic | -0.254 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/K | 0.9878 | likely_pathogenic | 0.982 | pathogenic | -0.853 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/L | 0.9709 | likely_pathogenic | 0.9655 | pathogenic | -0.254 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| G/M | 0.9791 | likely_pathogenic | 0.9721 | pathogenic | -0.424 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/N | 0.8648 | likely_pathogenic | 0.8324 | pathogenic | -0.548 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| G/P | 0.9936 | likely_pathogenic | 0.9934 | pathogenic | -0.238 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| G/Q | 0.9638 | likely_pathogenic | 0.9446 | pathogenic | -0.74 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| G/R | 0.9699 | likely_pathogenic | 0.9529 | pathogenic | -0.479 | Destabilizing | 1.0 | D | 0.856 | deleterious | N | 0.520755069 | None | None | N |
| G/S | 0.5657 | likely_pathogenic | 0.4905 | ambiguous | -0.783 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| G/T | 0.9043 | likely_pathogenic | 0.8809 | pathogenic | -0.809 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/V | 0.9655 | likely_pathogenic | 0.9592 | pathogenic | -0.238 | Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.532871843 | None | None | N |
| G/W | 0.9725 | likely_pathogenic | 0.9626 | pathogenic | -1.049 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/Y | 0.9737 | likely_pathogenic | 0.9652 | pathogenic | -0.659 | Destabilizing | 1.0 | D | 0.813 | 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.