Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14687 | 44284;44285;44286 | chr2:178630899;178630898;178630897 | chr2:179495626;179495625;179495624 |
| N2AB | 13046 | 39361;39362;39363 | chr2:178630899;178630898;178630897 | chr2:179495626;179495625;179495624 |
| N2A | 12119 | 36580;36581;36582 | chr2:178630899;178630898;178630897 | chr2:179495626;179495625;179495624 |
| N2B | 5622 | 17089;17090;17091 | chr2:178630899;178630898;178630897 | chr2:179495626;179495625;179495624 |
| Novex-1 | 5747 | 17464;17465;17466 | chr2:178630899;178630898;178630897 | chr2:179495626;179495625;179495624 |
| Novex-2 | 5814 | 17665;17666;17667 | chr2:178630899;178630898;178630897 | chr2:179495626;179495625;179495624 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | rs775432065  |
-0.101 | None | N | 0.037 | 0.057 | 0.0482279557977 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| M/I | rs775432065 |
-0.101 | None | N | 0.037 | 0.057 | 0.0482279557977 | gnomAD-4.0.0 | 3.18504E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72059E-06 | 0 | 0 |
| M/K | rs2059719184 |
None | 0.007 | N | 0.304 | 0.105 | 0.332386209738 | gnomAD-4.0.0 | 6.84431E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99654E-07 | 0 | 0 |
| M/L | None | None | None | N | 0.107 | 0.097 | 0.327952845175 | gnomAD-4.0.0 | 1.59256E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86023E-06 | 0 | 0 |
| M/T | rs2059719184 |
None | None | N | 0.095 | 0.07 | 0.440810947182 | gnomAD-4.0.0 | 3.42215E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59862E-06 | 0 | 1.65744E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.3474 | ambiguous | 0.3309 | benign | -1.566 | Destabilizing | 0.001 | N | 0.261 | neutral | None | None | None | None | N |
| M/C | 0.8073 | likely_pathogenic | 0.7681 | pathogenic | -1.288 | Destabilizing | 0.314 | N | 0.245 | neutral | None | None | None | None | N |
| M/D | 0.8311 | likely_pathogenic | 0.7827 | pathogenic | -0.675 | Destabilizing | 0.009 | N | 0.429 | neutral | None | None | None | None | N |
| M/E | 0.4916 | ambiguous | 0.4295 | ambiguous | -0.67 | Destabilizing | 0.009 | N | 0.399 | neutral | None | None | None | None | N |
| M/F | 0.2608 | likely_benign | 0.2516 | benign | -0.669 | Destabilizing | None | N | 0.078 | neutral | None | None | None | None | N |
| M/G | 0.6759 | likely_pathogenic | 0.6075 | pathogenic | -1.847 | Destabilizing | 0.009 | N | 0.331 | neutral | None | None | None | None | N |
| M/H | 0.6009 | likely_pathogenic | 0.5574 | ambiguous | -0.903 | Destabilizing | 0.314 | N | 0.361 | neutral | None | None | None | None | N |
| M/I | 0.1741 | likely_benign | 0.1887 | benign | -0.859 | Destabilizing | None | N | 0.037 | neutral | N | 0.409668053 | None | None | N |
| M/K | 0.2584 | likely_benign | 0.2366 | benign | -0.573 | Destabilizing | 0.007 | N | 0.304 | neutral | N | 0.429144816 | None | None | N |
| M/L | 0.1234 | likely_benign | 0.1285 | benign | -0.859 | Destabilizing | None | N | 0.107 | neutral | N | 0.399790576 | None | None | N |
| M/N | 0.4715 | ambiguous | 0.4439 | ambiguous | -0.432 | Destabilizing | 0.021 | N | 0.481 | neutral | None | None | None | None | N |
| M/P | 0.7026 | likely_pathogenic | 0.6664 | pathogenic | -1.068 | Destabilizing | 0.041 | N | 0.493 | neutral | None | None | None | None | N |
| M/Q | 0.313 | likely_benign | 0.2805 | benign | -0.57 | Destabilizing | 0.041 | N | 0.271 | neutral | None | None | None | None | N |
| M/R | 0.2346 | likely_benign | 0.1989 | benign | -0.008 | Destabilizing | 0.016 | N | 0.447 | neutral | N | 0.39560735 | None | None | N |
| M/S | 0.4057 | ambiguous | 0.3622 | ambiguous | -0.982 | Destabilizing | 0.002 | N | 0.256 | neutral | None | None | None | None | N |
| M/T | 0.1384 | likely_benign | 0.1282 | benign | -0.875 | Destabilizing | None | N | 0.095 | neutral | N | 0.346307474 | None | None | N |
| M/V | 0.0874 | likely_benign | 0.0906 | benign | -1.068 | Destabilizing | None | N | 0.061 | neutral | N | 0.397996355 | None | None | N |
| M/W | 0.6036 | likely_pathogenic | 0.5487 | ambiguous | -0.593 | Destabilizing | 0.314 | N | 0.243 | neutral | None | None | None | None | N |
| M/Y | 0.5967 | likely_pathogenic | 0.55 | ambiguous | -0.608 | Destabilizing | 0.004 | N | 0.387 | neutral | 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.