Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29369 | 88330;88331;88332 | chr2:178557049;178557048;178557047 | chr2:179421776;179421775;179421774 |
| N2AB | 27728 | 83407;83408;83409 | chr2:178557049;178557048;178557047 | chr2:179421776;179421775;179421774 |
| N2A | 26801 | 80626;80627;80628 | chr2:178557049;178557048;178557047 | chr2:179421776;179421775;179421774 |
| N2B | 20304 | 61135;61136;61137 | chr2:178557049;178557048;178557047 | chr2:179421776;179421775;179421774 |
| Novex-1 | 20429 | 61510;61511;61512 | chr2:178557049;178557048;178557047 | chr2:179421776;179421775;179421774 |
| Novex-2 | 20496 | 61711;61712;61713 | chr2:178557049;178557048;178557047 | chr2:179421776;179421775;179421774 |
| 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/C | None | None | 1.0 | N | 0.812 | 0.476 | 0.593685261966 | gnomAD-4.0.0 | 1.59141E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78071E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs55898359  |
-2.609 | 1.0 | N | 0.835 | 0.509 | 0.309839678437 | gnomAD-2.1.1 | 2.41E-05 | None | None | None | None | N | None | 0 | 1.74004E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs55898359 |
-2.609 | 1.0 | N | 0.835 | 0.509 | 0.309839678437 | gnomAD-4.0.0 | 3.42118E-06 | None | None | None | None | N | None | 0 | 1.11802E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs55898359 |
0.17 | 1.0 | D | 0.893 | 0.493 | 0.552005039658 | gnomAD-2.1.1 | 1.21479E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.54671E-03 | None | 0 | None | 0 | 2.34E-05 | 1.40726E-04 |
| G/V | rs55898359 |
0.17 | 1.0 | D | 0.893 | 0.493 | 0.552005039658 | gnomAD-3.1.2 | 6.57E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.34927E-03 | None | 0 | 0 | 2.94E-05 | 0 | 4.78469E-04 |
| G/V | rs55898359 |
0.17 | 1.0 | D | 0.893 | 0.493 | 0.552005039658 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| G/V | rs55898359 |
0.17 | 1.0 | D | 0.893 | 0.493 | 0.552005039658 | gnomAD-4.0.0 | 3.0984E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 9.15751E-04 | None | 0 | 0 | 4.23793E-06 | 0 | 6.40246E-05 |
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 | 0.4794 | ambiguous | 0.3493 | ambiguous | -0.761 | Destabilizing | 1.0 | D | 0.633 | neutral | N | 0.490805123 | None | None | N |
| G/C | 0.7714 | likely_pathogenic | 0.6704 | pathogenic | -1.17 | Destabilizing | 1.0 | D | 0.812 | deleterious | N | 0.506733785 | None | None | N |
| G/D | 0.9412 | likely_pathogenic | 0.9056 | pathogenic | -1.767 | Destabilizing | 1.0 | D | 0.835 | deleterious | N | 0.489564128 | None | None | N |
| G/E | 0.9564 | likely_pathogenic | 0.9162 | pathogenic | -1.731 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| G/F | 0.9849 | likely_pathogenic | 0.9749 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/H | 0.9536 | likely_pathogenic | 0.9298 | pathogenic | -1.497 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| G/I | 0.9853 | likely_pathogenic | 0.9661 | pathogenic | -0.114 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/K | 0.9874 | likely_pathogenic | 0.9751 | pathogenic | -1.131 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| G/L | 0.9785 | likely_pathogenic | 0.9562 | pathogenic | -0.114 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| G/M | 0.9783 | likely_pathogenic | 0.9573 | pathogenic | -0.291 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| G/N | 0.8801 | likely_pathogenic | 0.8373 | pathogenic | -1.082 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| G/P | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -0.288 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| G/Q | 0.9421 | likely_pathogenic | 0.9027 | pathogenic | -1.156 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| G/R | 0.9573 | likely_pathogenic | 0.9211 | pathogenic | -1.007 | Destabilizing | 1.0 | D | 0.878 | deleterious | N | 0.488082871 | None | None | N |
| G/S | 0.2832 | likely_benign | 0.2167 | benign | -1.383 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | N | 0.457999973 | None | None | N |
| G/T | 0.834 | likely_pathogenic | 0.7148 | pathogenic | -1.259 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| G/V | 0.9612 | likely_pathogenic | 0.9176 | pathogenic | -0.288 | Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.529104001 | None | None | N |
| G/W | 0.9735 | likely_pathogenic | 0.9559 | pathogenic | -1.434 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| G/Y | 0.9617 | likely_pathogenic | 0.9384 | pathogenic | -0.936 | Destabilizing | 1.0 | D | 0.857 | 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.